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A ventricular septal defect (VSD) The ventricular septum

consists of an inferior muscular and superior membranous

 portion and is extensively innervated with conducting

cardiomyocytes. Congenital VSDs are collectively the mostcommon congenital heart defects.[3]

During ventricular contraction, or systole, some of 

the blood from the left ventricle leaks into the right

ventricle, passes through the lungs and reenters

the left ventricle via the pulmonary veins and left

atrium. This has two net effects. First, thecircuitous refluxing of blood causes volume

overload on the left ventricle. Second, because the

left ventricle normally has a much higher systolic

pressure (~120 mm Hg) than the right ventricle

(~20 mm Hg), the leakage of blood into the right

ventricle therefore elevates right ventricular

pressure and volume, causing pulmonary

hypertension with its associated symptoms. This

effect is more noticeable in patients with larger

defects, who may present with breathlessness,

poor feeding and failure to thrive in infancy.

Patients with smaller defects may be

asymptomatic.

Treatment

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A nitinol device for closing muscular VSDs, 4 mm diameter in

the centre. It is shown mounted on the catheter into which it will

 be withdrawn during insertion.

Treatment is either conservative or surgical. Smaller congenital

VSDs often close on their own, as the heart grows, and in such

cases may be treated conservatively. In cases necessitating

surgical intervention, a heart-lung machine is required and a

median sternotomy is performed. Percutaneous endovascular  

 procedures are less invasive and can be done on a beating heart,

 but are only suitable for certain patients. Repair of most VSDs is

complicated by the fact that the conducting system of the heart 

is in the immediate vicinity.

Ventricular septum defect in infants is initially treated medicallywith cardiac glycosides (e.g., digoxin 10-20mcg/kg per day),

loop diuretics (e.g., furosemide 1–3 mg/kg per day) and ACE

inhibitors (e.g., captopril 0.5–2 mg/kg per day).

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Pulmonary stenosis is a congenital (present at birth) defect that

occurs due to abnormal development of the fetal heart during the

first 8 weeks of pregnancy.

The pulmonary valve is found between the right ventricle andthe pulmonary artery. It has three leaflets that function like a

one-way door, allowing blood to flow forward into the

 pulmonary artery, but not backward into the right ventricle.

With pulmonary stenosis, problems with the pulmonary valve

make it harder for the leaflets to open and permit blood to flow

forward from the right ventricle to the lungs. In children, these problems can include:

• a valve that has leaflets that are partially fused together.

• a valve that has thick leaflets that do not open all the way.

• the area above or below the pulmonary valve is narrowed.

There are four different types of pulmonary stenosis:

• valvar pulmonary stenosis - the valve leaflets are thickened

and/or narrowed

• supravalvar pulmonary stenosis - the pulmonary artery just

above the pulmonary valve is narrowed

• subvalvar (infundibular) pulmonary stenosis - the muscle

under the valve area is thickened, narrowing the outflow

tract from the right ventricle

•  branch peripheral pulmonic stenosis - the right or left

 pulmonary artery is narrowed, or both may be narrowed

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Pulmonary stenosis may be present in varying degrees,

classified according to how much obstruction to blood flow is

 present. A child with severe pulmonary stenosis could be quite

ill, with major symptoms noted early in life. A child with mild pulmonary stenosis may have few or no symptoms, or perhaps

none until later in adulthood. A moderate or severe degree of 

obstruction can become worse with time.

What causes pulmonary stenosis?

Congenital pulmonary stenosis occurs due to improper 

development of the pulmonary valve in the first 8 weeks of fetalgrowth. It can be caused by a number of factors, though most of 

the time this heart defect occurs sporadically (by chance), with

no clear reason evident for its development.

Some congenital heart defects may have a genetic link, either 

occurring due to a defect in a gene, a chromosome abnormality,

or environmental exposure, causing heart problems to occur 

more often in certain families.

Why is pulmonary stenosis a concern?

Mild pulmonary stenosis may not cause any symptoms.

Problems can occur when pulmonary stenosis is moderate to

severe, including the following:

•  The right ventricle has to work harder to try tomove blood through the tight pulmonary valve.Eventually, the right ventricle is no longer ableto handle the extra workload, and it fails topump forward efficiently. Pressure builds up in

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the right atrium, and then in the veins bringingblood back to the right side of the heart. Fluidretention and swelling may occur.

•

 There is a higher than average chance of developing an infection in the lining of theheart known as bacterial endocarditis.

What are the symptoms of pulmonary

stenosis?

The following are the most common symptoms of pulmonary

stenosis. However, each child may experience symptomsdifferently. Symptoms may include:

• heavy or rapid breathing• shortness of breath

• fatigue

• rapid heart rate

• swelling in the feet, ankles, face, eyelids,and/or abdomen

• fewer wet diapers or trips to the bathroom

The symptoms of pulmonary stenosis may resemble other 

medical conditions or heart problems. Always consult your 

child's physician for a diagnosis.How is pulmonary stenosis diagnosed?

Your child's physician may have heard a heart murmur during a

 physical examination, and referred your child to a pediatric

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cardiologist for a diagnosis. A heart murmur is simply a noise

caused by the turbulence of blood flowing through the

obstruction from the right ventricle to the pulmonary artery.

Symptoms your child exhibits will also help with the diagnosis.A pediatric cardiologist specializes in the diagnosis and medical

management of congenital heart defects, as well as heart

 problems that may develop later in childhood. The cardiologist

will perform a physical examination, listening to the heart and

lungs, and make other observations that help in the diagnosis.

The location within the chest that the murmur is heard best, as

well as the loudness and quality of the murmur (harsh, blowing,etc.) will give the cardiologist an initial idea of which heart

 problem your child may have. However, other tests are needed

to help with the diagnosis, and may include the following:

• chest x-ray - a diagnostic test which usesinvisible electromagnetic energy beams toproduce images of internal tissues, bones, and

organs onto film.• electrocardiogram (ECG or EKG) - a test that

records the electrical activity of the heart,shows abnormal rhythms (arrhythmias ordysrhythmias), and detects heart musclestress.

• echocardiogram (echo) - a procedure thatevaluates the structure and function of theheart by using sound waves recorded on anelectronic sensor that produce a movingpicture of the heart and heart valves.

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• cardiac catheterization - a cardiaccatheterization is an invasive procedure thatgives very detailed information about the

structures inside the heart. Under sedation, asmall, thin, flexible tube (catheter) is insertedinto a blood vessel in the groin, and guided tothe inside of the heart. Blood pressure andoxygen measurements are taken in the fourchambers of the heart, as well as thepulmonary artery and aorta. Contrast dye isalso injected to more clearly visualize thestructures inside the heart.

Treatment for pulmonary stenosis:

Specific treatment for pulmonary stenosis will be determined by

your child's physician based on:

• your child's age, overall health, and medical

history• extent of the condition

• your child's tolerance for specific medications,procedures, or therapies

• expectations for the course of the condition

• your opinion or preference

Mild pulmonary stenosis often does not require treatment.

Moderate or severe stenosis is treated with repair of the

obstructed valve. Several options are currently available.

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Some infants will be very sick, require care in the intensive care

unit (ICU) prior to the procedure, and could possibly even need

emergency repair of the pulmonary valve if the stenosis is

severe. Others, who are exhibiting few symptoms, will have therepair scheduled on a less urgent basis.

Repair options include the following:

• balloon dilation or valvuloplastyAn interventional cardiac catheterizationprocedure is the most common treatment

choice. A small, flexible tube (catheter) isinserted into a blood vessel in the groin, andguided to the inside of the heart. The tube hasa deflated balloon in the tip. When the tube isplaced in the narrowed valve, the balloon isinflated to stretch the area open. Thisprocedure may be used for valvar, supravalvar,or branch types of pulmonary stenosis.Children who have undergone balloon dilationwill need to follow antibiotic prophylaxis for aspecific period of time after discharge from thehospital.

• valvotomyValvotomy is the surgical release of adhesionsthat are preventing the valve leaflets from

opening properly. This type of procedure isgenerally not performed, as balloon dilation orvalvuloplasty has become more common.

• valvectomy (with or without transannularpatch)

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Valvectomy is the surgical removal of the valveand the widening of the outflow patch toimprove blood flow from the right ventricle into

the pulmonary artery. Once the individualreaches adulthood, the pulmonary valve isgenerally replaced.

• pulmonary valve replacementReplacement of the pulmonary valve is asurgical procedure that is often recommendedin adulthood. A tissue valve (pig or human)

may be used. Children who have undergone avalve replacement will need to follow antibioticprophylaxis throughout their life.

Postprocedure care for your child:

• cath lab interventional procedureWhen the procedure is complete, thecatheter(s) will be withdrawn. Several gauzepads and a large piece of medical tape will beplaced on the site where the catheter wasinserted to prevent bleeding. In some cases, asmall, flat weight or sandbag may be used tohelp keep pressure on the catheterization siteand decrease the chance of bleeding. If bloodvessels in the leg were used, your child will be

told to keep the leg straight for a few hoursafter the procedure to minimize the chance of bleeding at the catheterization site.

 Your child will be taken to a unit in the hospital

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where he/she will be monitored by nursing staff for several hours after the test. The length of time it takes for your child to wake up after the

procedure will depend on the type of medicinegiven to your child for relaxation prior to thetest, and also on your child's reaction to themedication.

After the procedure, your child's nurse willmonitor the pulses and skin temperature in theleg or arm that was used for the procedure.

 Your child may be able to go home after aspecified period of time, providing he/she doesnot need further treatment or monitoring. Youwill receive written instructions regarding careof the catheterization site, bathing, activityrestrictions, and any new medications your

child may need to take at home.• surgical repair

After surgery, your child will go to the intensivecare unit (ICU). While your child is in the ICU,special equipment will be used to help him/herrecover from surgery, and may include thefollowing:

o ventilator - a machine that helps your childbreathe while he/she is under anesthesiaduring the operation. A small, plastic tubeis guided into the windpipe and attached tothe ventilator, which breathes for your

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child while he/she is too sleepy to breatheeffectively on his/her own. Many childrenremain on the ventilator for a while after

surgery so they can rest.o intravenous (IV) catheters - small, plastic

tubes inserted through the skin into bloodvessels to provide IV fluids and importantmedicines that help your child recover fromthe operation.

o arterial line - a specialized IV placed in the

wrist, or other area of the body where apulse can be felt, that measures bloodpressure continuously during surgery andwhile your child is in the ICU.

o nasogastric (NG) tube - a small, flexibletube that keeps the stomach drained of acid and gas bubbles that may build upduring surgery.

o urinary catheter - a small, flexible tube thatallows urine to drain out of the bladder andaccurately measures how much urine thebody makes, which helps determine howwell the heart is functioning. After surgery,

the heart will be a little weaker than it wasbefore, and, therefore, the body may startto hold onto fluid, causing swelling andpuffiness. Diuretics may be given to helpthe kidneys to remove excess fluid fromthe body.

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o chest tube - a drainage tube may beinserted to keep the chest free of bloodthat would otherwise accumulate after the

incision is closed. Bleeding may occur forseveral hours, or even a few days aftersurgery.

o heart monitor - a machine that constantlydisplays a picture of your child's heartrhythm, and monitors heart rate, arterialblood pressure, and other values.

 Your child may need other equipment not

mentioned here to provide support while in the

ICU, or afterwards. The hospital staff will

explain all of the necessary equipment to you.

 Your child will be kept as comfortable as

possible with several different medications;some which relieve pain, and some which

relieve anxiety. The staff will also be asking for

your input as to how best to soothe and

comfort your child.

After discharge from the ICU, your child willrecuperate on another hospital unit for a few

days before going home. You will learn how to

care for your child at home before your child is

discharged. Your child may need to take

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medications for a while, and these will be

explained to you. The staff will give you

instructions regarding medications, activity

limitations, and follow-up appointments beforeyour child is discharged.

Long-term outlook after pulmonary stenosis

repair:

Your child's cardiologist may recommend that antibiotics be

given to prevent bacterial endocarditis after discharge from thehospital.

Occasionally, repeat interventional cath lab procedures may be

necessary during infancy and childhood to stretch the valve

open. Replacement of the pulmonary valve is generally

recommended later during adolescence or early adulthood to

 prevent complications such as enlargement of the right ventricle,

heart failure, and dysrhythmias (irregular heart rhythms).

Regular follow-up care at a center offering pediatric or adult

congenital cardiac care should continue throughout the

individual's lifespan.

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Aortic stenosis is a heart defect that may be congenital (presentat birth) or acquired (develop later in life). If the problem is

congenital, then something occurred during the first 8 weeks of 

 pregnancy to affect the development of the aortic valve.

The aortic valve is found between the left ventricle and the

aorta. It has three leaflets that function like a one-way door,

allowing blood to flow forward into the aorta, but not backward

into the left ventricle. Aortic stenosis is the inability of the aorticvalve to open completely.

With aortic stenosis, problems with the aortic valve make it

harder for the leaflets to open and permit blood to flow forward

from the left ventricle to the aorta. In children, these problems

can include a valve that:

• only has two leaflets instead of three (bicuspid aorticvalve).

• has leaflets that are partially fused together.

• has thick leaflets that do not open all the way.

•  becomes damaged by rheumatic fever or bacterial

endocarditis.

• area above or below the valve is narrowed (supravalvar or subvalvar).

Congenital aortic stenosis occurs four times more often in boys

than in girls.

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What causes aortic stenosis?

Congenital aortic stenosis occurs due to improper development

of the aortic valve in the first 8 weeks of fetal growth. It can be

caused by a number of factors, though, most of the time, this

heart defect occurs sporadically (by chance), with no apparent

reason for its development.

Some congenital heart defects may have a genetic link, either 

occurring due to a defect in a gene, a chromosome abnormality,

or environmental exposure, causing heart problems to occur 

more often in certain families.

Acquired aortic stenosis may occur after a strep infection that

 progresses to rheumatic fever.

Why is aortic stenosis a concern?

Mild aortic stenosis may not cause any symptoms. Several

 problems may occur, however, when aortic stenosis is moderateto severe, including the following:

•  The left ventricle has to work harder to try tomove blood through the tight aortic valve.Eventually, the left ventricle is no longer ableto handle the extra workload, and it fails topump blood to the body efficiently.

•  There is a higher than average chance that theaorta may become dilated (enlarged). This canincrease the risk of an aneurysm or dissectionof the aorta.

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•  There is a higher than average chance of developing an infection in the lining of theheart or aorta known as bacterial endocarditis.

•  The coronary arteries, which supply oxygen-rich (red) blood to the heart muscle, may notreceive enough blood to meet the demands of the heart.

What are the symptoms of aortic stenosis?

The following are the most common symptoms of aortic

stenosis. However, each child may experience symptoms

differently. Symptoms may include:

• fatigue• dizziness with exertion

• shortness of breath

•

irregular heartbeats or palpitations• chest pain

The symptoms of aortic stenosis may resemble other medical

conditions or heart problems. Always consult your child's

 physician for a diagnosis.

How is aortic stenosis diagnosed?

Your child's physician may have heard a heart murmur during a

 physical examination, and referred your child to a pediatric

cardiologist for a diagnosis. A heart murmur is simply a noise

caused by the turbulence of blood flowing through the

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obstruction from the right ventricle to the pulmonary artery.

Symptoms your child exhibits will also help with the diagnosis.

A pediatric cardiologist specializes in the diagnosis and medical

management of congenital heart defects, as well as heart problems that may develop later in childhood. The cardiologist

will perform a physical examination, listening to your child's

heart and lungs, and make other observations that help in the

diagnosis. The location within the chest that the murmur is heard

 best, as well as the loudness and quality of the murmur (harsh,

 blowing, etc.) will give the cardiologist an initial idea of which

heart problem your child may have. However, other tests areneeded to help with the diagnosis, and may include the

following:

• chest x-ray - a diagnostic test which usesinvisible electromagnetic energy beams toproduce images of internal tissues, bones, andorgans onto film.

• electrocardiogram (ECG or EKG) - a test thatrecords the electrical activity of the heart,shows abnormal rhythms (arrhythmias ordysrhythmias), and detects heart musclestress.

• echocardiogram (echo) - a procedure thatevaluates the structure and function of theheart by using sound waves recorded on anelectronic sensor that produce a movingpicture of the heart and heart valves.

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• exercise electrocardiogram (ECG or EKG) - anexercise EKG is done to assess the heart'sresponse to stress or exercise. The EKG is

monitored while your child is exercising on atreadmill or stationary bike. An EKG measuresthe electrical activity of your child's heart.

• cardiac catheterization - a cardiaccatheterization is an invasive procedure thatgives very detailed information about thestructures inside the heart. Under sedation, a

small, thin, flexible tube (catheter) is insertedinto a blood vessel in the groin, and guided tothe inside of the heart. Blood pressure andoxygen measurements are taken in the fourchambers of the heart, as well as thepulmonary artery and aorta. Contrast dye isalso injected to more clearly visualize the

structures inside the heart.Treatment for aortic stenosis:

Specific treatment for aortic stenosis will be determined by your 

child's physician based on:

• your child's age, overall health, and medicalhistory

• extent of the disease

• your child's tolerance for specific medications,procedures, or therapies

• expectations for the course of the disease

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• your opinion or preference

Aortic stenosis is treated with repair of the obstructed valve.

Several options are currently available.

Some infants will be very sick, require care in the intensive care

unit (ICU) prior to the procedure, and could possibly even need

emergency repair of the aortic stenosis. Others, who are

exhibiting few symptoms, will have the repair scheduled on a

less urgent basis.

Activity may be limited in children who have moderate aortic

stenosis prior to repair. For instance, competitive sports thatrequire endurance may be restricted.

Repair options include the following:

• balloon dilation - a cardiac catheterizationprocedure, a small, flexible tube (catheter) isinserted into a blood vessel in the groin, and

guided to the inside of the heart. The tube hasa deflated balloon in the tip. When the tube isplaced in the narrowed valve, the balloon isinflated to stretch the area open. Children whohave undergone balloon dilation will need tofollow antibiotic prophylaxis for a specificperiod of time after discharge from the

hospital.• valvotomy - surgical release of adhesions that

are preventing the valve leaflets from openingproperly.

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• aortic valve replacement - the aortic valve isreplaced with a new mechanism. Replacementvalve mechanisms fall into two categories:

tissue (biological) valves, which include animalvalves, and mechanical valves, which can bemetal, plastic, or another artificialmechanism. Children who have undergone avalve replacement will need to follow antibioticprophylaxis throughout their lifetime.

• aortic homograft - a section of aorta from a

tissue donor with its valve intact is used toreplace the aortic valve and a section of theascending aorta.

• pulmonary homograft (Ross procedure) - asection of the child's own pulmonary arterywith the valve intact is used to replace theaortic valve and a section of the aorta. A

section of pulmonary artery from a tissuedonor with its valve intact is used to replacethe transferred pulmonary artery.

Postoperative care for your child:

After surgery, your child will go to the intensive care unit (ICU).

While your child is in the ICU, special equipment will be used

to help him/her recover from surgery, and may include thefollowing:

• ventilator - a machine that helps your childbreathe while he/she is under anesthesia

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during the operation. A small, plastic tube isguided into the windpipe and attached to theventilator, which breathes for your child while

he/she is too sleepy to breathe effectively onhis/her own. Many children remain on theventilator for a while after surgery so they canrest.

• intravenous (IV) catheters - small, plastic tubesinserted through the skin into blood vessels toprovide IV fluids and important medicines thathelp your child recover from the operation.

• arterial line - a specialized IV placed in thewrist, or other area of the body where a pulsecan be felt, that measures blood pressurecontinuously during surgery and while yourchild is in the ICU.

• nasogastric (NG) tube - a small, flexible tube

that keeps the stomach drained of acid and gasbubbles that may build up during surgery.

• urinary catheter - a small, flexible tube thatallows urine to drain out of the bladder andaccurately measures how much urine the bodymakes, which helps determine how well theheart is functioning. After surgery, the heart

will be a little weaker than it was before, and,therefore, the body may start to hold ontofluid, causing swelling and puffiness. Diureticsmay be given to help the kidneys to removeexcess fluid from the body.

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• chest tube - a drainage tube may be insertedto keep the chest free of blood that wouldotherwise accumulate after the incision is

closed. Bleeding may occur for several hours,or even several days after surgery.

• heart monitor - a machine that constantlydisplays a picture of your child's heart rhythm,and monitors heart rate, arterial bloodpressure, and other values.

Your child may need other equipment not mentioned here to

 provide support while in the ICU, or afterwards. The hospital

staff will explain all of the necessary equipment to you.

Your child will be kept as comfortable as possible with several

different medications; some which relieve pain and some which

relieve anxiety. The staff will also be asking for your input as to

how best to soothe and comfort your child.

After discharged from the ICU, your child will recuperate on

another hospital unit for a few days before going home. You will

learn how to care for your child at home before your child is

discharged. Your child may need to take medications for a

while, and these will be explained to you. The staff will give you

instructions regarding medications, activity limitations, and

follow-up appointments before your child is discharged.

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Long-term outlook after aortic stenosis

surgical repair:

Most children who have had an aortic stenosis surgical repair will live healthy lives. Activity levels, appetite, and growth

should eventually return to normal.

As the child grows, a valve that was ballooned may once again

 become narrowed. If this happens, a second balloon procedure

or operation may be necessary to repair aortic stenosis.

Your child's cardiologist may recommend that antibiotics begiven to prevent bacterial endocarditis after discharge from the

hospital.

Individuals who had a mechanical valve replacement may need

to take anticoagulants (blood thinners) to prevent blood clots

from forming on the artificial valve surfaces. Regular 

monitoring of the blood’s clotting status is very important in

maintaining the most appropriate dose of anticoagulants.

Initial valve replacement is often performed using a tissue valve

to avoid the need for anticoagulation, especially for females of 

childbearing age. Anticoagulation during pregnancy is very

difficult to manage, and requires special treatment.

Repeat valve replacement is not uncommon during the lifespan.

In addition, blood pressure should be closely monitored andmanaged.

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Tetralogy of Fallot (TOF) is a congenital heart defect which is

classically understood to involve four anatomical abnormalities

(although only three of them are always present). It is the mostcommon cyanotic heart defect, representing 55-70%, and the

most common cause of  blue baby syndrome.

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Primary four malformations

"Tetralogy" denotes a four-part phenomenon in various fields,

including literature, and the four parts the syndrome's name

implies are its four signs. This is not to be confused with the

similarly named teratology, a field of medicine concerned with

abnormal development and congenital malformations, which

thereby includes tetralogy of Fallot as part of its subject matter.

As such, by definition, tetralogy of Fallot involves exactly four 

heart malformations which present together:

Condition Description A: Pulmonary stenosis A narrowing of 

the right ventricular outflow tract and can occur at the

 pulmonary valve (valvular stenosis) or just below the pulmonary

valve (infundibular stenosis). Infundibular pulmonic stenosis is

mostly caused by overgrowth of the heart muscle wall

(hypertrophy of the septoparietal trabeculae) however the events

leading to the formation of the overriding aorta are also believed

to be a cause. The pulmonic stenosis is the major cause of themalformations, with the other associated malformations acting

as compensatory mechanisms to the pulmonic stenosis. The

degree of stenosis varies between individuals with TOF, and is

the primary determinant of symptoms and severity.

This malformation is infrequently described as

A. sub-pulmonary stenosis or  subpulmonary obstruction.

B: Overriding aorta An aortic valve with biventricular 

connection, that is, it is situated above the ventricular septal

defect and connected to both the right and the left ventricle. The

degree to which the aorta is attached to the right ventricle is

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referred to as its degree of "override." The aortic root can be

displaced toward the front (anteriorly) or directly above the

septal defect, but it is always abnormally located to the right of 

the root of the pulmonary artery. The degree of override is quitevariable, with 5-95% of the valve being connected to the right

ventricle.

C: ventricular septal defect (VSD) A hole between the two

 bottom chambers (ventricles) of the heart. The defect is centered

around the most superior aspect of the ventricular septum (the

outlet septum), and in the majority of cases is single and large.

In some cases thickening of the septum (septal hypertrophy) cannarrow the margins of the defect.

D: Right ventricular hypertrophy The right ventricle is more

muscular than normal, causing a characteristic boot-shaped

(coeur-en-sabot) appearance as seen by chest X-ray. Due to the

misarrangement of the external ventricular septum, the right

ventricular wall increases in size to deal with the increased

obstruction to the right outflow tract. This feature is nowgenerally agreed to be a secondary anomaly, as the level of 

hypertrophy generally increases with age. 

It occurs slightly more often in males than in females.

Additional anomalies

In addition, tetralogy of Fallot may present with other anatomical anomalies, including:

1. stenosis of the left pulmonary artery, in 40% of patients

2.a bicuspid pulmonary valve, in 40% of patients

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3.right-sided aortic arch, in 25% of patients

4. coronary artery anomalies, in 10% of patients

5.

a foramen ovale or atrial septal defect, inwhich case the syndrome is sometimes called apentalogy of Fallot

6. an atrioventricular septal defect

7. partially or totally anomalous pulmonaryvenous return

8.forked ribs and scoliosisTetralogy of Fallot with pulmonary atresia ( pseudotruncus

arteriosus) is a severe variant in which there is complete

obstruction (atresia) of the right ventricular outflow tract,

causing an absence of the pulmonary trunk during embryonic

development. In these individuals, blood shunts completely from

the right ventricle to the left where it is pumped only through the

aorta. The lungs are perfused via extensive collaterals from thesystemic arteries, and sometimes also via the ductus arteriosus.

Pathophysiology and symptoms

Tetralogy of Fallot results in low oxygenation of blood due to

the mixing of oxygenated and deoxygenated blood in the left

ventricle via the VSD and preferential flow of the mixed blood

from both ventricles through the aorta because of the obstructionto flow through the pulmonary valve. This is known as a right-

to-left shunt. The primary symptom is low blood oxygen

saturation with or without cyanosis from birth or developing in

the first year of life. If the baby is not cyanotic then it is

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sometimes referred to as a "pink tet". Other symptoms include a

heart murmur which may range from almost imperceptible to

very loud, difficulty in feeding, failure to gain weight, retarded

growth and physical development, dyspnea on exertion,clubbing of the fingers and toes, and polycythemia.

Children with tetralogy of Fallot may develop "tet spells". The

 precise mechanism of these episodes is in doubt, but presumably

results from a transient increase in resistance to blood flow to

the lungs with increased preferential flow of desaturated blood

to the body. Tet spells are characterized by a sudden, marked

increase in cyanosis followed by syncope, and may result inhypoxic brain injury and death. Older children will often squat

during a tet spell, which increases systemic vascular resistance

and allows for a temporary reversal of the shunt.

Diagnosis

The abnormal "coeur-en-sabot" (boot-like) appearance of a heart

with tetralogy of Fallot is easily visible via chest x-ray, and

 before more sophisticated techniques became available, this was

the definitive method of diagnosis. Congenital heart defects are

now diagnosed with echocardiography, which is quick, involves

no radiation, is very specific, and can be done prenatally.

Treatment

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Emergency management of tet spells

Prior to corrective surgery, children with tetralogy of Fallot may

 be prone to consequential acute hypoxia (tet spells),

characterized by sudden cyanosis and syncope. These may be

treated with beta-blockers such as propranolol, but acute

episodes may require rapid intervention with morphine to reduce

ventilatory drive and a vasopressor such as epinephrine,

 phenylephrine, or norepinephrine to increase blood pressure.

Oxygen is effective in treating spells because it is a potent

 pulmonary vasodilator and systemic vasoconstrictor. This allows

more blood flow to the lungs. There are also simple proceduressuch as squatting in the knee-chest position which increases

aortic wave reflection, increasing pressure on the left side of the

heart, decreasing the right to left shunt thus decreasing the

amount of deoxygenated blood entering the systemic circulation.

What Is Tetralogy of Fallot?

Tetralogy (teh-TRAL-o-je) of Fallot (fah-LO) is a congenital

heart defect. A congenital heart defect is a problem with the

heart's structure that’s present at birth. This type of heart defect

changes the normal flow of blood through the heart.

Tetralogy of Fallot is a rare, complex heart defect that occurs in

about 5 out of every 10,000 babies. It affects boys and girls

equally.

Overview

Tetralogy of Fallot involves four heart defects:

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• A large ventricular septal defect (VSD)• Pulmonary (PULL-mon-ary) stenosis

• Right ventricular hypertrophy (hi-PER-tro-fe)

• An overriding aorta

Ventricular Septal Defect

The heart has a wall that separates the two chambers on its left

side from the two chambers on its right side. This wall is called

a septum. The septum prevents blood from mixing between the

two sides of the heart.

A VSD is a hole in the part of the septum that separates the

ventricles, the lower chambers of the heart. The hole allows

oxygen-rich blood from the left ventricle to mix with oxygen-

 poor blood from the right ventricle.

Pulmonary Stenosis

This defect is a narrowing of the pulmonary valve and the

 passage through which blood flows from the right ventricle to

the pulmonary artery.

 Normally, oxygen-poor blood from the right ventricle flows

through the pulmonary valve, into the pulmonary artery, and out

to the lungs to pick up oxygen. In pulmonary stenosis, the heart

has to work harder than normal to pump blood, and not enough blood reaches the lungs.

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Right Ventricular Hypertrophy

This defect occurs if the right ventricle thickens because the

heart has to pump harder than it should to move blood through

the narrowed pulmonary valve.

Overriding Aorta

This is a defect in the aorta, the main artery that carries oxygen-

rich blood to the body. In a healthy heart, the aorta is attached to

the left ventricle. This allows only oxygen-rich blood to flow to

the body.In tetralogy of Fallot, the aorta is between the left and right

ventricles, directly over the VSD. As a result, oxygen-poor 

 blood from the right ventricle flows directly into the aorta

instead of into the pulmonary artery to the lungs.

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 Normal heart TOF

\

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Congestive Heart Failure

Congestive heart failure (CHF), or heart failure, is a condition in

which the heart can't pump enough blood to the body's other organs. This can result from

• narrowed arteries that supply blood to the heart

muscle — coronary artery disease

•  past heart attack, or myocardial infarction, with scar tissue

that interferes with the heart muscle's normal work 

• high blood pressure

• heart valve disease due to past rheumatic fever or other causes

•  primary disease of the heart muscle itself, called

cardiomyopathy.

• heart defects present at birth — congenital heart defects.

• infection of the heart valves and/or heart muscle

itself — endocarditis and/or myocarditis

The "failing" heart keeps working but not as efficiently as it

should. People with heart failure can't exert themselves because

they become short of breath and tired.

As blood flow out of the heart slows, blood returning to the

heart through the veins backs up, causing congestion in the

tissues. Often swelling (edema) results. Most often there'sswelling in the legs and ankles, but it can happen in other parts

of the body, too. Sometimes fluid collects in the lungs and

interferes with breathing, causing shortness of breath, especially

when a person is lying down.

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How do you diagnose and treat congestive heart failure?

Your doctor is the best person to make the diagnosis. The most

common signs of congestive heart failure are swollen legs or 

ankles or difficulty breathing. Another symptom is weight gainwhen fluid builds up.

CHF usually requires a treatment program of 

• rest

•  proper diet

•

modified daily activities• drugs such as

o ACE (angiotensin-converting enzyme) inhibitors

o  beta blockers

o digitalis

o diureticso vasodilators

Various drugs are used to treat congestive heart failure. They

 perform different functions. ACE inhibitors and vasodilators

expand blood vessels and decrease resistance. This allows blood

to flow more easily and makes the heart's work easier or more

efficient. Beta blockers can improve how well the heart's leftlower chamber (left ventricle) pumps. Digitalis increases the

 pumping action of the heart, while diuretics help the body

eliminate excess salt and water.

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When a specific cause of congestive heart failure is discovered,

it should be treated or, if possible, corrected. For example, some

cases of congestive heart failure can be treated by treating high

 blood pressure. If the heart failure is caused by an abnormalheart valve, the valve can be surgically replaced.

If the heart becomes so damaged that it can't be repaired, a more

drastic approach should be considered. A heart transplant could

 be an option.

Most people with mild and moderate congestive heart failure

can be treated. Proper medical supervision can prevent themfrom becoming invalids.

What is congestive heart failure?

Congestive heart failure (CHF) is a term used by cardiologists to

describe a patient whose heart does not pump enough blood out

to the rest of the body to meet the body's demand for energy.

This can be due to either a heart that pumps well but is very

insufficient (due to a structural problem), or it can be a result of 

a weak heart muscle that does not pump a normal amount of 

 blood to the body.

Either situation will lead to backup of blood and fluid into the

lungs if the left side of the heart is the problem or backup of 

 blood and fluid into the liver and veins leading into the heart if the right side of the heart is problem.

It is not uncommon for both sides of the heart to fail at the same

time and cause backup into both systems simultaneously.

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For the purpose of the Cincinnati Children's Hospital Medical

Center's Heart Encyclopedia, the focus is on backup or 

excessive blood flow into the lungs, which is the most common

use of the term in pediatrics.Congestive heart failure causes

There are two main categories of causes of congestive heart

failure.

The first category is more common in babies and younger 

children. In this situation, the heart muscle pumps well, but the

route that blood takes is very inefficient. It occurs when too

much blood goes to the lungs, which the lungs and eventually

the heart find difficult to handle. This happens with certain kinds

of holes or connections with which some babies are born. With

these connections (also known as shunts), blood that has already

returned from the lungs filled with oxygen to the heart actually

ends up back in the lungs then back in the heart again. Example

of these types of lesions include:

• A patent ductus arteriosus is a blood vesselbetween the aorta and main pulmonary arterythat all babies require in fetal life but whichusually closes within the first couple of days of life.

If it is large and does not close, the baby willhave an excessive amount of blood flow to thelungs. This is a very common problem inpremature infants.

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• Another problem that leads to excessive bloodflow to the lungs is a large ventricular septaldefect (VSD) or a hole between the two lower

pumping chambers of the heart. These willcause congestive heart failure only if the holeis big enough to allow so much extra blood flowto the lungs that the heart has to work a lotharder to pump blood out to the body.

• Some babies are born with other connectionsbetween the two main arteries leaving the

heart, i.e., aortopulmonary window or truncusarteriosus. These babies are also at risk forhaving too much blood flow to the lungs.

• Holes between the two upper chambers of theheart (atrial septal defects) rarely causeproblems with congestive heart failure nomatter how large.

The second cause for congestive heart failure is when the heart

muscle is not strong enough to pump a normal amount of blood.

This is usually seen in older children but can be seen in babies.

A major cause of this type of congestive heart failure in babies is

when structures on the left side of the heart are so small or 

narrowed that blood has a difficult time ejecting from the heart

leading to backup into the lungs. This can be seen in criticalaortic stenosis, critical coarctation of the aorta, or hypoplastic

left heart syndrome.

In older children where the structure of the heart is normal, it is

usually due to a weakening of the heart muscle, or 

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cardiomyopathy, infection of the heart muscle (myocarditis) or 

Kawasaki Disease, which all can lead to congestive heart failure.

Cardiomyopathy can also be seen in babies and can be due to a

number of problems such as rhythm disturbances or infections.

Congestive heart failure symptoms

Symptoms are different for children of different ages. In babies,

regardless of the cause of congestive heart failure, the end result

of significant congestive heart failure is poor growth. This is

 because in babies with congestive heart failure a significant

amount of energy is used up by the heart as it works harder to do

its job.

In addition, as the lungs fill with fluid, it becomes more difficult

for babies to breathe and they will use more of the muscles of 

their chest and belly to compensate.

These babies will also have a harder time eating and may not eat

as fast or as well as other babies. They can become very sweaty

with feedings because of the extra work needed to eat.

Some babies work so hard that they wear themselves out and

sleep more or have less energy than babies without heart

 problems, although this is hard to gauge as different babies will

have different sleeping habits regardless of whether or not they

have heart problems.

All of this extra work will result in the baby's inability to take in

enough nutrition to grow, which is an infant's top priority in the

first year of life.

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These symptoms will not usually occur as soon as the baby is

 born. This is because the pressures in the lungs of all babies are

equal to the pressures of the rest of the body when babies are

first born.It can take anywhere from two days to eight weeks before the

 pressures in the lungs fall to normal. Babies with ventricular 

septal defects or other sources of extra flow to the lungs can

often feed and grow as expected for all babies in the first one to

two weeks of life because their high pressures in the lungs will

 prevent excessive blood flow to the lungs.

The symptoms of poor growth -- difficulty with feeds and fast

 breathing -- will gradually appear during the first or second

week of life as the pressures in the lungs begin to fall and blood

flows across the hole into the lungs.

Babies with obstruction to blood flow out of the left side of the

heart or a weak heart muscle may have these symptoms much

sooner, sometimes in the first few days of life depending on thedegree of obstruction or weakness.

Older children with congestive heart failure are beyond the time

of rapid growth and therefore do not have major growth

 problems like infants. Their symptoms are usually related to

their inability to tolerate exercise. They become short of breath

more quickly compared to their peers and need to rest more

often.

Shortness of breath can occur even with minimal exertion, such

as climbing stairs or taking a walk if the heart failure is severe.

These children will often lack energy when compared to their 

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friends, although this may be harder to determine because all

children have different levels of energy.

In children with heart failure, passing out during exercise may

 be very serious and needs to be evaluated immediately. Appetitemay be poor when heart failure is severe and weight loss or lack 

of weight gain can be seen even in older children.

Some children will retain fluid and will actually gain weight

with heart failure and appear puffy. As it is harder to determine

 parameters for heart failure in older children, it is important to

look . The symptoms described above are important clues to the problem. A good physical examination is of major importance.

Babies with congestive heart failure may be small and wasted

appearing. They will often breathe faster than normal and their 

heart rates are often fast, even when asleep.

Blood pressures and pulses can be normal or can be diminished

in infants with left-sided obstruction. On examination of theheart, there may be a particular type of heart murmur called a

diastolic rumble, which may indicate extra blood flow to the

lungs.

In addition, the heart is pumping so hard that one can feel or 

even see the heart impulse on the surface of the chest quite

easily in babies with significant congestive heart failure.

Sometimes there is an extra sound when listening to the heart,

 particularly in older children, called a gallop. This can also be a

sign of significant heart failure.

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The liver may also be enlarged due to congestion on the right

side of the heart and may be more easily palpated (felt).

There may be puffiness of the eyes or feet as the right heart fails.

An electrocardiogram may be helpful to indicate if the chambers

of the heart are enlarged and can point to specific congenital

heart diseases or rhythm disturbances that can cause heart

failure.

A chest X-ray can be very useful to determine if the heart is

enlarged and if there is extra blood flow or fluid in the lungs.

This can be very important in determining the progression of congestive heart failure.

A graded exercise test can also be used to follow progression of 

heart failure in some instances for older children.

An echocardiogram confirms the diagnosis of structural

 problems of the heart, and can be used in evaluating the function

of the heart muscle.

Sometimes a cardiac catheterization must be performed to

further investigate the function of the heart.

Finally, for some older children and adolescents, a cardiac MRI

 provides a useful means to evaluate heart function.

Treating congestive heart failure

Treatment can vary with age and type of disease. A treatable

cause, such as a rhythm problem, may require specific

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medications or procedures. In babies with ventricular septal

defects, medical therapy can be used as a temporary solution to

allow the hole to get smaller or close on its own, or to give the

 baby a little time to grow prior to heart surgery.In more complex problems such as aortopulmonary window,

truncus arteriosus, or hypoplastic left heart syndrome, when it is

known that surgery will be needed, it is currently the practice in

most centers to perform surgery in the first weeks of life.

Some congenital heart disease cannot undergo surgery and a

heart transplant is the only option. In older children with weak heart muscles, medication can help decrease the workload of the

heart to give it time to heal, though some of these children will

also eventually require transplants.

There are several types of medications used to treat congestive

heart failure.A diuretic like furosemide (Lasix), which helps the kidneys to

eliminate extra fluid in the lungs, is often the first medicine

given both in babies and older children.

Sometimes medicines to lower the blood pressure like an ACE

inhibitor (Captopril) or more recently beta-blockers

(Propranalol) are used. Theoretically, lowering the blood pressure will decrease the workload of the heart by decreasing

the amount of pressure against which it has to pump.

Sometimes a medication called Digoxin is used to help make the

heart squeeze better, and help pump blood more efficiently.

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Since weight gain is a major challenge for infants with

congestive heart failure, giving babies high calorie formula or 

fortified breast milk can help give the extra nutrition they

require.Sometimes babies will need to have extra nutrition given to

them via a tube that goes directly from the nose to the stomach,

a nasogastric feeding tube. This is good for babies who work 

hard or get very tired from feeding in order to prevent them from

using up all the extra calories needed for growth.

Older children with significant heart failure can also benefitfrom nasogastric feeding to give them more calories and energy

to do their usual activities.

Oxygen can worsen blood flow to the lungs in babies with large

ventricular septal defects but may be helpful as a buffer to

children with weak hearts.

Some kids with cardiomyopathy may also need restriction of certain kinds of exercise and competitive sports, although they

may benefit from light activity like swimming.

Congestive heart failure outcomes / survival

All outcomes depend on the cause. If congestive heart failure is

due to a structural problem of the heart that can be fixed, the

outcome is excellent.

Babies with large ventricular septal defects whose holes get

smaller or are closed surgically are able to lead a normal life.

Babies with more complex congenital heart disease may have

more variable results.

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Older children with cardiomyopathy tend to progress, unless the

cause of the cardiomyopathy is reversible. The key in managing

heart failure is making the proper diagnosis, having close

follow-up with a cardiologist and taking medications prescribedon a daily basis.

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Anemia (pronounced anaemia and anæmia; from Ancient

Greek  ναιμίαἀ anaimia, meaning "lack of blood") is a decrease

in normal number of red blood cells (RBCs) or less than the

normal quantity of hemoglobin in the blood. However, it can

include decreased oxygen-binding ability of each hemoglobin

molecule due to deformity or lack in numerical development as

in some other types of hemoglobin deficiency.

Since hemoglobin (found inside RBCs) normally carries oxygen 

from the lungs to the tissues, anemia leads to hypoxia (lack of 

oxygen) in organs. Since all human cells depend on oxygen for 

survival, varying degrees of anemia can have a wide range of 

clinical consequences.

Anemia is the most common disorder of the blood. There are

several kinds of anemia, produced by a variety of underlyingcauses. Anemia can be classified in a variety of ways, based on

the morphology of RBCs, underlying etiologic mechanisms, and

discernible clinical spectra, to mention a few. The three main

classes of anemia include excessive blood loss (acutely such as a

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hemorrhage or chronically through low-volume loss), excessive

 blood cell destruction (hemolysis) or deficient red blood cell

 production (ineffective hematopoiesis).

There are two major approaches: the "kinetic" approach whichinvolves evaluating production, destruction and loss, and the

"morphologic" approach which groups anemia by red blood cell

size. The morphologic approach uses a quickly available and

cheap lab test as its starting point (the MCV). On the other hand,

focusing early on the question of production may allow the

clinician more rapidly to expose cases where multiple causes of 

anemia coexis

Anemia goes undetected in many people, and symptoms can be

minor or vague. The signs and symptoms can be related to the

anemia itself, or the underlying cause.

Most commonly, people with anemia report non-specific

symptoms of a feeling of weakness, or fatigue, general malaise 

and sometimes poor concentration. They may also reportshortness of breath, dyspnea, on exertion. In very severe anemia,

the body may compensate for the lack of oxygen carrying

capability of the blood by increasing cardiac output. The patient

may have symptoms related to this, such as palpitations, angina

(if preexisting heart disease is present), intermittent claudication 

of the legs, and symptoms of heart failure.

On examination, the signs exhibited may include pallor (paleskin, mucosal linings and nail beds) but this is not a reliable

sign. There may be signs of specific causes of anemia, e.g.,

koilonychia (in iron deficiency), jaundice (when anemia results

from abnormal break down of red blood cells — in hemolytic

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anemia), bone deformities (found in thalassaemia major) or leg

ulcers (seen in sickle cell disease).

In severe anemia, there may be signs of a hyperdynamic

circulation: a fast heart rate (tachycardia), flow murmurs, andcardiac enlargement. There may be signs of heart failure.

Pica, the consumption of non-food based items such as dirt,

 paper, wax, grass, ice, and hair, may be a symptom of iron

deficiency, although it occurs often in those who have normal

levels of hemoglobin.

Chronic anemia may result in behavioral disturbances inchildren as a direct result of impaired neurological development

in infants, and reduced scholastic performance in children of 

school age.

Restless legs syndrome is more common in those with iron

deficiency anemia.

Less common symptoms may include swelling of the legs or 

arms, chronic heartburn, vague bruises, vomiting, increased

sweating, and blood in stool.

Microcytic anemiaMain article: Microcytic anemia

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Microcytic anemia is primarily a result of hemoglobin synthesis

failure/insufficiency, which could be caused by several

etiologies:

• Heme synthesis defecto Iron deficiency anemia

o Anemia of chronic disease (morecommonly presenting as normocyticanemia)

• Globin synthesis defect

o alpha-, and beta-thalassemia

o HbE syndrome

o HbC syndrome

o and various other unstable hemoglobindiseases

• Sideroblastic defect

o Hereditary sideroblastic anemia

o Acquired sideroblastic anemia, includinglead toxicity

o Reversible sideroblastic anemia

Iron deficiency anemia is the most common type of anemiaoverall and it has many causes. RBCs often appear hypochromic

(paler than usual) and microcytic (smaller than usual) when

viewed with a microscope.

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• Iron deficiency anemia is caused by insufficientdietary intake or absorption of iron to replacelosses from menstruation or losses due to

diseases. Iron is an essential part of hemoglobin, and low iron levels result indecreased incorporation of hemoglobin into redblood cells. In the United States, 20% of allwomen of childbearing age have irondeficiency anemia, compared with only 2% of adult men. The principal cause of irondeficiency anemia in premenopausal women isblood lost during menses. Studies have shownthat iron deficiency without anemia causespoor school performance and lower IQ inteenage girls. Iron deficiency is the mostprevalent deficiency state on a worldwidebasis. Iron deficiency is sometimes the causeof abnormal fissuring of the angular (corner)

sections of the lips (angular stomatitis).• Iron deficiency anemia can also be due to

bleeding lesions of the gastrointestinal tract.Faecal occult blood testing, upper endoscopy and lower endoscopy should be performed toidentify bleeding lesions. In men and post-menopausal women the chances are higher

that bleeding from the gastrointestinal tractcould be due to colon polyp or colorectalcancer.

• Worldwide, the most common cause of irondeficiency anemia is parasitic infestation

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(hookworm, amebiasis, schistosomiasis andwhipworm).

Macrocytic anemia

Main article: Macrocytic anemia

• Megaloblastic anemia, the most common causeof macrocytic anemia, is due to a deficiency of either vitamin B12, folic acid (or both).Deficiency in folate and/or vitamin B12 can bedue either to inadequate intake or insufficient

absorption. Folate deficiency normally does notproduce neurological symptoms, while B12deficiency does.

o Pernicious anemia is caused by a lack of intrinsic factor. Intrinsic factor is requiredto absorb vitamin B12 from food. A lack of intrinsic factor may arise from anautoimmune condition targeting theparietal cells (atrophic gastritis) thatproduce intrinsic factor or against intrinsicfactor itself. These lead to poor absorptionof vitamin B12.

o Macrocytic anemia can also be caused byremoval of the functional portion of the

stomach, such as during gastric bypass surgery, leading to reduced vit B12/folateabsorption. Therefore one must always beaware of anemia following this procedure.

• Hypothyroidism

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• Alcoholism commonly causes a macrocytosis,although not specifically anemia. Other typesof Liver Disease can also cause macrocytosis.

• Methotrexate, zidovudine, and other drugs thatinhibit DNA replication.

Macrocytic anemia can be further divided into "megaloblastic

anemia" or "non-megaloblastic macrocytic anemia". The cause

of megaloblastic anemia is primarily a failure of DNA synthesis

with preserved RNA synthesis, which result in restricted cell

division of the progenitor cells. The megaloblastic anemias often

 present with neutrophil hypersegmentation (6–10 lobes). The

non-megaloblastic macrocytic anemias have different etiologies

(i.e. there is unimpaired DNA globin synthesis,) which occur,

for example in alcoholism.

In addition to the non-specific symptoms of anemia, specific

features of vitamin B12 deficiency include peripheral

neuropathy and subacute combined degeneration of the cord with resulting balance difficulties from posterior column spinal

cord pathology.[8] Other features may include a smooth, red

tongue and glossitis.

The treatment for vitamin B12-deficient anemia was first

devised by William Murphy who bled dogs to make them

anemic and then fed them various substances to see what (if 

anything) would make them healthy again. He discovered thatingesting large amounts of liver seemed to cure the disease.

George Minot and George Whipple then set about to chemically

isolate the curative substance and ultimately were able to isolate

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the vitamin B12 from the liver. All three shared the 1934 Nobel

Prize in Medicine.

Normocytic anemia

Main article: Normocytic anemia

 Normocytic anemia occurs when the overall hemoglobin levels

are always decreased, but the red blood cell size (Mean

corpuscular volume) remains normal. Causes include:

• Acute blood loss•

Anemia of chronic disease• Aplastic anemia (bone marrow failure)

• Hemolytic anemia

Dimorphic anemia

When two causes of anemia act simultaneously, e.g., macrocytic

hypochromic, due to hookworm infestation leading to deficiencyof both iron and vitamin B12 or folic acid or following a blood

transfusion more than one abnormality of red cell indices may

 be seen. Evidence for multiple causes appears with an elevated

RBC distribution width (RDW), which suggests a wider-than-

normal range of red cell sizes.

Heinz body anemia

Heinz bodies form in the cytoplasm of RBCs and appear like

small dark dots under the microscope. There are many causes of 

Heinz body anemia, and some forms can be drug induced. It is

triggered in cats by eating onions[11]  or acetaminophen (Tylenol).

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It can be triggered in dogs by ingesting onions or zinc, and in

horses by ingesting dry red maple leaves.

Cause

• Anemia of prematurity occurs in prematureinfants at 2 to 6 weeks of age and results fromdiminished erythropoietin response to declininghematocrit levels.

• Aplastic anemia is a condition generallyunresponsive to anti-anemia therapies where

bone marrow fails to produce enough red bloodcells.

• Fanconi anemia is a hereditary disorder ordefect featuring aplastic anemia and variousother abnormalities.

• Hemolytic anemia causes a separateconstellation of symptoms (also featuring jaundice and elevated LDH levels) withnumerous potential causes. It can beautoimmune, immune, hereditary ormechanical (e.g. heart surgery). It can result(because of cell fragmentation) in a microcyticanemia, a normochromic anemia, or (becauseof premature release of immature red blood

cells from the bone marrow), a macrocyticanemia.

• Hereditary spherocytosis is a hereditary defectthat results in defects in the RBC cellmembrane, causing the erythrocytes to be

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sequestered and destroyed by the spleen. Thisleads to a decrease in the number of circulating RBCs and, hence, anemia.

• Sickle-cell anemia, a hereditary disorder, is dueto homozygous hemoglobin S genes.

• Warm autoimmune hemolytic anemia is ananemia caused by autoimmune attack againstred blood cells, primarily by IgG.

• Cold agglutinin hemolytic anemia is primarily

mediated by IgM.• Pernicious anemia is a form of megaloblastic

anemia due to vitamin B12 deficiencydependent on impaired absorption of vitaminB12.

• Myelophthisic anemia or Myelophthisis is asevere type of anemia resulting from thereplacement of bone marrow by othermaterials, such as malignant tumors orgranulomas.

• Anemia of Pregnancy is anemia that is inducedby blood volume expansion experienced inpregnancy.

Possible complications

Anemia diminishes the capability of affected individuals to

 perform physical activities, a result of one's muscles being

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forced to depend on anaerobic metabolism. The lack of iron

associated with anemia can cause many complications, including

hypoxemia, brittle or rigid fingernails, cold intolerance, and

 possible behavioral disturbances in children. Hypoxemiaresulting from anemia can worsen the cardio-pulmonary status

of patients with pre-existing chronic pulmonary disease. Cold

intolerance occurs in one in five patients with iron deficiency

anemia, and becomes visible through numbness and tingling.

Anemia during pregnancy

Anemia affects 20 percent of all women of childbearing age inthe United States Due to the subtlety of the symptoms, affected

women are often unaware that they have this disorder, as they

attribute the symptoms to the stresses of their daily lives.

Possible problems for the fetus include increased risk of growth

retardation, prematurity, intrauterine death, rupture of the

amnion and infection.

An expectant woman should be especially aware of thesymptoms of anemia, as an adult female loses an average of two

milligrams of iron daily. Therefore, she must intake a similar 

quantity of iron in order to compensate for this loss.

Additionally, a woman loses approximately 500 milligrams of 

iron with each pregnancy, compared with a loss of 4–100

milligrams of iron with each period. Possible consequences

include cardiovascular symptoms, reduced physical and mental

 performance, reduced immune function, fatigue, reduced

 peripartal blood reserves and increased need for blood

transfusion in the postpartum period. This may severely affect

the health of the child.

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Treatments

There are many different treatments for anemia and the

treatment depends on severity and the cause.

Iron deficiency from nutritional causes is rare in non-

menstruating adults (men and post-menopausal women). The

diagnosis of iron deficiency mandates a search for potential

sources of loss such as gastrointestinal bleeding from ulcers or 

colon cancer. Mild to moderate iron deficiency anemia is treated

 by oral iron supplementation with ferrous sulfate, ferrous

fumarate, or ferrous gluconate. When taking iron supplements, itis very common to experience stomach upset and/or darkening

of the feces. The stomach upset can be alleviated by taking the

iron with food, however this decreases the amount of iron

absorbed. Vitamin C aids in the body's ability to absorb iron, so

taking oral iron supplements with orange juice is of benefit.

Vitamin supplements given orally (folic acid) or subcutaneously

(vitamin B-12) will replace specific deficiencies.

In anemia of chronic disease, anemia associated with

chemotherapy, or anemia associated with renal disease, some

clinicians prescribe recombinant erythropoietin, epoetin alfa, to

stimulate red cell production.

In severe cases of anemia, or with ongoing blood loss, a blood

transfusion may be necessary.

[edit] Blood transfusions

Doctors attempt to avoid blood transfusion in general, since

multiple lines of evidence point to increased adverse patient

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clinical outcomes with more intensive transfusion strategies. The

 physiological principle that reduction of oxygen delivery

associated with anemia leads to adverse clinical outcomes is

 balanced by the finding that transfusion does not necessarilymitigate these adverse clinical outcomes.

In severe, acute bleeding, transfusions of donated blood are

often lifesaving. Improvements in battlefield casualty survival is

attributable, at least in part, to the recent improvements in blood

 banking and transfusion techniques.

Transfusion of the stable but anemic hospitalized patient has been the subject of numerous clinical trials, and transfusion is

emerging as a deleterious intervention.

Four randomized controlled clinical trials have been conducted

to evaluate aggressive versus conservative transfusion strategies

in critically ill patients. All four of these studies failed to find a

 benefit with more aggressive transfusion strategies.

In addition, at least two retrospective studies have shown

increases in adverse clinical outcomes with more aggressive

transfusion strategie

Anemia is a condition that develops when your blood lacks

enough healthy red blood cells. These cells are the maintransporters of oxygen to organs. If red blood cells are also

deficient in hemoglobin, then your body isn't getting enough

oxygen. Symptoms of anemia -- like fatigue -- occur because

organs aren't getting enough oxygen.

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Anemia is the most common blood condition in the U.S. It

affects about 3.5 million Americans. Women and people with

chronic diseases are at increased risk of anemia. Important

factors to remember are:• Certain forms of anemia are hereditary and

infants may be affected from the time of birth.• Women in the childbearing years are

particularly susceptible to a form of anemiacalled iron-deficiency anemia because of theblood loss from menstruation and the

increased blood supply demands duringpregnancy.

• Seniors also may have a greater risk of developing anemia because of poor diet andother medical conditions.

There are many types of anemia. All are very different in their 

causes and treatments. Iron-deficiency anemia, the mostcommon type, is very treatable with diet changes and iron

supplements. Some forms of anemia -- like the anemia that

develops during pregnancy -- are even considered normal.

However, some types of anemia may present lifelong health

 problems.

What Causes Anemia?

There are more than 400 types of anemia, which are divided into

3 groupings:

• Anemia caused by blood loss

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• Anemia caused by decreased or faulty redblood cell production

• Anemia caused by destruction of red blood

cells

Anemia Caused by Blood Loss 

Red blood cells can be lost through bleeding, which can occur 

slowly over a long period of time, and can often go undetected.

This kind of chronic bleeding commonly results from the

following:

• Gastrointestinal conditions such as ulcers,hemorrhoids, gastritis (inflammation of thestomach) and cancer

• Use of nonsteroidal anti-inflammatory drugs (NSAIDS) such as aspirin or Motrin

• Menstruation and childbirth in women,

especially if menstrual bleeding is excessiveand if there are multiple pregnancies

Anemia Caused by Decreased or Faulty Red Blood Cell

Production 

The body may produce too few blood cells or the blood cells

may not work properly. In either case, anemia can result. Red

 blood cells may be faulty or decreased due to abnormal red blood cells or the a lack of minerals and vitamins needed for red

 blood cells to work properly. Conditions associated with these

causes of anemia include the following:

• Sickle cell  anemia

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• Iron deficiency anemia

• Vitamin deficiency

•

Bone marrow and stem cell problems• Other health conditions

Sickle cell anemia is an inherited disorder that affects African-

Americans. Red blood cells become crescent-shaped because of 

a genetic defect. They break down rapidly, so oxygen does not

get to the body's organs, causing anemia. The crescent-shaped

red blood cells also get stuck in tiny blood vessels, causing pain.

Iron deficiency anemia occurs because of a lack of the mineral

iron in the body. Bone marrow in the center of the bone needs

iron to make hemoglobin, the part of the red blood cell that

transports oxygen to the body's organs. Without adequate iron,

the body cannot produce enough hemoglobin for red blood cells.

The result is iron deficiency anemia. Iron deficiency anemia can

 be caused by the following:

• An iron-poor diet, especially in infants, children, teens and

vegetarians

• The metabolic demands of pregnancy and breastfeeding 

that deplete a woman's iron stores

• Menstruation

• Frequent blood donation

• Endurance training

• Digestive conditions such as Crohn's disease or surgical

removal of part of the stomach or small intestine

• Certain drugs, foods, and caffeinated drinks

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Vitamin deficiency anemia may occur when vitamin B-12 and

folate are deficient. These two vitamins are needed to make red

 blood cells. Conditions leading to anemia caused by vitamin

deficiency include the following:• Megaloblastic anemia: Vitamin B-12 or folate or both are

deficient

• Pernicious anemia: Poor vitamin B-12 absorption caused

 by conditions such as Crohn's disease, an intestinal parasite

infection, surgical removal of part of the stomach or 

intestine, or infection with HIV

• Dietary deficiency: Eating little or no meat may cause a

lack vitamin B12, while overcooking or eating too few

vegetables may cause a folate dificiency

• Other causes of vitamin deficiency: pregnancy, certain

medications, alcohol abuse, intestinal diseases such as

tropical sprue and gluten-sensitive enteropathy (celiac 

disease)

During early pregnancy, sufficient folic acid can prevent the

fetus from developing neural tube defects such as spina bifida.

Bone marrow and stem cell problems may prevent the body

from producing enough red blood cells. Some of the stem cells

found in bone marrow develop into red blood cells. If stem cells

are too few, defective, or replaced by other cells such as

metastatic cancer cells, anemia may result. Anemia resulting

from bone marrow or stem cell problems include the following:

• Aplastic anemia occurs when there's a marked reduction in

the number of stem cells or absence of these cells. Aplastic

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anemia can be inherited, can occur without apparent cause,

or can occur when the bone marrow is injured by

medications, radiation, chemotherapy, or infection.

•

Thalassemia occurs when the red cells can't mature andgrow properly. Thalassemia is an inherited condition that

typically affects people of Mediterranean, African, Middle

Eastern, and Southeast Asian descent. This condition can

range in severity from mild to life-threatening; the most

severe form is called Cooley's anemia.

• Lead exposure is toxic to the bone marrow, leading to

fewer red blood cells. Lead poisoning occurs in adults fromwork-related exposure and in children who eat paint chips.

Improperly glazed pottery can also taint food and liquids

with lead.

Anemia associated with other conditions usually occur when

there are too few hormones necessary for red blood cell production. Conditions causing this type of anemia include the

following:

• Advanced kidney disease

• Hypothyroidism

• Other chronic diseases - examples include cancer,

infection, and autoimmune disorders such as lupus or 

rheumatoid arthritis

Anemia Caused by Destruction of Red Blood Cells 

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When red blood cells are fragile and cannot withstand the

routine stress of the circulatory system, they may rupture

 prematurely, causing hemolytic anemia. Hemolytic anemia can

 be present at birth or develop later. Sometimes there is noknown cause (spontaneous). Known causes of hemolytic anemia

may include any of the following:

• Inherited conditions, such as sickle cell anemia and

thalassemia

• Stressors such as infections, drugs, snake or spider venom,

or certain foods

• Toxins from advanced liver or kidney disease

• Inappropriate attack by the immune system (called

hemolytic disease of the newborn when it occurs in the

fetus of a pregnant woman)

• Vascular grafts, prosthetic heart valves, tumors, severe

 burns, chemical exposure, severe hypertension, and clotting

disorders

• In rare cases, an enlarged spleen can trap red blood cells

and destroy them before their circulating time is up

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Thalassaemia (American spelling, "thalassemia") is an

inherited autosomal recessive  blood disease. In thalassemia, thegenetic defect results in reduced rate of synthesis of one of the

globin chains that make up hemoglobin. Reduced synthesis of 

one of the globin chains can cause the formation of abnormal

hemoglobin molecules, thus causing anemia, the characteristic

 presenting symptom of the thalassemias.

Thalassemia is a quantitative problem of too few globins

synthesized, whereas sickle-cell anemia (a hemoglobinopathy) is

a qualitative problem of synthesis of an incorrectly functioning

globin. Thalassemias usually result in underproduction of 

normal globin proteins, often through mutations in regulatory

genes. Hemoglobinopathies imply structural abnormalities in the

globin proteins themselves. The two conditions may overlap,

however, since some conditions which cause abnormalities in

globin proteins (hemoglobinopathy) also affect their production(thalassemia). Thus, some thalassemias are hemoglobinopathies,

 but most are not. Either or both of these conditions may cause

anemia.

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The thalassemia trait may confer a degree of protection against

malaria, which is or was prevalent in the regions where the trait

is common, thus confering a selective survival advantage on

carriers, and perpetuating the mutation. In that respect thevarious thalassemias resemble another genetic disorder affecting

hemoglobin, sickle-cell disease.

Alpha (α) thalassemias

Main article: Alpha-thalassemia

The α thalassemias involve the genes HBA1 and HBA2,

inherited in a Mendelian recessive fashion. It is also connected

to the deletion of the 16p chromosome. α thalassemias result in

decreased alpha-globin production, therefore fewer alpha-globin

chains are produced, resulting in an excess of β chains in adults

and excess γ chains in newborns. The excess β chains form

unstable tetramers (called Hemoglobin H or HbH of 4 beta

chains) which have abnormal oxygen dissociation curves.

Beta (β) thalassemias

Main article: Beta-thalassemia

Beta thalassemias are due to mutations in the HBB gene on

chromosome 11 , also inherited in an autosomal-recessive

fashion. The severity of the disease depends on the nature of the

mutation. Mutations are characterized as (βo or β thalassemia

major) if they prevent any formation of β chains (which is the

most severe form of beta Thalassemia); they are characterized as

(β+ or β thalassemia intermedia) if they allow some β chain

formation to occur. In either case there is a relative excess of α

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chains, but these do not form tetramers: rather, they bind to the

red blood cell membranes, producing membrane damage, and at

high concentrations they form toxic aggregates.

Delta (δ) thalassemia

Main article: Delta-thalassemia

As well as alpha and beta chains being present in hemoglobin

about 3% of adult hemoglobin is made of alpha and delta chains.

Just as with beta thalassemia, mutations can occur which affect

the ability of this gene to produce delta chains.

In combination with other

hemoglobinopathies

Thalassemia can co-exist with other hemoglobinopathies. The

most common of these are:

• hemoglobin E/thalassemia: common inCambodia, Thailand, and parts of India;clinically similar to β thalassemia major orthalassemia intermedia.

• hemoglobin S/thalassemia, common in Africanand Mediterranean populations; clinicallysimilar to sickle cell anemia, with the additional

feature of splenomegaly• hemoglobin C/thalassemia: common in

Mediterranean and African populations,hemoglobin C/βo thalassemia causes amoderately severe hemolytic anemia with

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splenomegaly; hemoglobin C/β+ thalassemiaproduces a milder disease.

Treatment

Patients with thalassemia minor usually do not require anyspecific treatment. Treatment for patients with thalassemia

major includes chronic blood transfusion therapy, iron chelation,

splenectomy, and allogeneic hematopoietic transplantation.

Medication

Medical therapy for beta thalassemia primarily involves iron

chelation. Deferoxamine is the intravenously administeredchelation agent currently approved for use in the United States.

Deferasirox (Exjade) is an oral iron chelation drug also

approved in the US in 2005.

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The antioxidant indicaxanthin, found in beets, in a

spectrophotometric study showed that indicaxanthin can reduce

 perferryl-Hb generated in solution from met-Hb and hydrogen

 peroxide, more effectively than either Trolox or Vitamin C.Collectively, results demonstrate that indicaxanthin can be

incorporated into the redox machinery of β-thalassemic RBC

and defend the cell from oxidation, possibly interfering with

 perferryl-Hb, a reactive intermediate in the hydroperoxide-

dependent Hb degradation.

Thalassemias are genetic disorders that involve the decreased

and defective production of hemoglobin, a molecule found

inside all red blood cells (RBCs) that transports oxygen

throughout the body.

Thalassemia can cause ineffective production of RBCs and their 

destruction. As a result, people with thalassemia often have a

reduced number of RBCs in the bloodstream (anemia), whichcan affect the transportation of oxygen to body tissues. In

addition, thalassemia can cause RBCs to be smaller than normal

or drop hemoglobin in the RBCs to below-normal levels.

Causes

Thalassemia is always inherited, passed on from parents to

children through their genes. A child usually does not developsymptoms unless both parents carry a thalassemia gene.

If only one parent passes a gene for thalassemia on to the child,

then the child is said to have thalassemia trait. Thalassemia trait

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will not develop into the full-blown disease, and no medical

treatment is necessary.

Types of Thalassemias

 Alpha-Thalassemia

Children with alpha-thalassemia trait do not have thalassemia

disease. People normally have four genes for alpha globin, two

inherited from each parent. If one or two of these four genes are

affected, the child is said to have alpha-thalassemia trait.

A specific blood test called a hemoglobin electrophoresis is usedto screen for alpha-thalassemia trait and can be done in infancy.

Sometimes, alpha-thalassemia trait can be detected through

routine newborn blood screening, which is required in most

states in the U.S.

Often, results of the hemoglobin electrophoresis test are normal

in people who have alpha-thalassemia trait and a diagnosis of 

alpha-thalassemia is done only after other conditions are ruled

out and after the parents are screened. The disease can be harder 

to detect in older kids and adults.

Kids who have the alpha-thalassemia trait usually have no

significant health problems except mild anemia, which can

cause slight fatigue.

Alpha-thalassemia trait is often mistaken for an iron deficiency

anemia because RBCs will appear small when viewed under a

microscope.

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Other cases can cause more severe anemia where three genes are

affected. People with this form of alpha-thalassemia may require

occasional blood transfusions during times of physical stress,

like fevers or other illnesses, or when the anemia is severeenough to cause symptoms such as fatigue.

The most severe form of the disorder is called alpha-thalassemia

major. This type is extremely rare, and women carrying fetuses

with this form of thalassemia have a high incidence of 

miscarriage because the fetuses cannot survive.

Beta-ThalassemiaBeta-thalassemia, the most common form of the disorder seen in

the United States, is grouped into three categories: beta-

thalassemia minor (trait), intermedia, and major (Cooley's

anemia). A person who carries a beta-thalassemia gene has a

25% (1 in 4) chance of having a child with the disease if his or 

her partner also carries the trait.

Beta-Thalassemia Minor (trait)

Beta-thalassemia minor often goes undiagnosed because kids

with the condition have no real symptoms other than mild

anemia and small red blood cells. It is often suspected based on

routine blood tests such as a complete blood count (CBC) and

can be confirmed with a hemoglobin electrophoresis. No

treatment is usually needed.

As with alpha-thalassemia trait, the anemia associated with this

condition may be misdiagnosed as an iron deficiency.

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Beta-Thalassemia Intermedia

Children with beta-thalassemia intermedia have varying effects

from the disease — mild anemia might be their only symptom or 

they might require regular blood transfusions.

The most common complaint is fatigue or shortness of breath.

Some kids also experience heart palpitations, also due to the

anemia, and mild jaundice, which is caused by the destruction of 

abnormal red blood cells that result from the disease. The liver 

and spleen may be enlarged, which can feel uncomfortable for a

child. Severe anemia can also affect growth.

Another symptom of beta-thalassemia intermedia can be bone

abnormalities. Because the bone marrow is working overtime to

make more RBCs to counteract the anemia, kids can experience

enlargement of their cheekbones, foreheads, and other bones.

Gallstones are a frequent complication because of abnormalities

in bile production that involve the liver and the gallbladder.

Some kids with beta thalassemia intermedia may require a blood

transfusion only occasionally. They will always have anemia,

 but may not need transfusions except during illness, medical

complications, or later on during pregnancy.

Other children with this form of the disease require regular 

 blood transfusions. In these kids, low or falling hemoglobin

levels greatly reduce the blood's ability to carry oxygen to the body, resulting in extreme fatigue, poor growth, and facial

abnormalities. Regular transfusions can help alleviate these

 problems. Sometimes, kids who have this form of the disease

have their spleens removed.

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Beta-thalassemia intermedia is often diagnosed in the first year 

of life. Doctors may be prompted to test for it when a child has

chronic anemia or a family history of the condition. As long as it

is diagnosed while the child is still doing well and has notexperienced any serious complications, it can be successfully

treated and managed.

Beta-Thalassemia Major 

Beta-thalassemia major, also called Cooley's anemia, is a severe

condition in which regular blood transfusions are necessary for 

the child to survive.

Although multiple lifelong transfusions save lives, they also

cause a serious side effect: an overload of iron in the bodies of 

thalassemia patients. Over time, people with thalassemia

accumulate deposits of iron, especially in the liver, heart, and

endocrine (hormone-producing) glands. The deposits eventually

can affect the normal functioning of the heart, and liver, in

addition to delaying growth and sexual maturation.

To minimize iron deposits, kids must undergo chelation (iron-

removing) therapy. This can be done by taking daily medication

 by mouth or by subcutaneous or intravenous administration.

Daily chelation therapy is given 5 to 7 days a week and has been

 proven to prevent liver and heart damage from iron overload,

allow for normal growth and sexual development, and increaselife span. Iron concentrations are monitored every few months.

Sometimes liver biopsies are needed to get a more accurate

 picture of the body's iron load.

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Children on regular transfusions are monitored closely for iron

levels and complications of iron overload on the chelation

medications.

Other risks associated with chronic blood transfusions for thalassemia major include blood-borne diseases like hepatitis B

and C. Blood banks screen for such infections, in addition to

rarer infections such as HIV. In addition, kids who have many

transfusions can develop allergic reactions that can prevent

further transfusions and cause serious illnesses.

For kids and teens with thalassemia, adolescence can be adifficult time, particularly because of the amount of time

required for transfusions and chelation therapy.

Spina bifida (Latin: "split spine") is a developmental birth

defect caused by the incomplete closure of the embryonic neural

tube. Some vertebrae overlying the spinal cord are not fullyformed and remain unfused and open. If the opening is large

enough, this allows a portion of the spinal cord to protrude

through the opening in the bones. There may or may not be a

fluid-filled sac surrounding the spinal cord. Other neural tube

defects include anencephaly, a condition in which the portion of 

the neural tube which will become the cerebrum does not close,

and encephalocele, which results when other parts of the brain

remain unfused.

Spina bifida malformations fall into four categories: spina bifida

occulta, spina bifida cystica (myelomeningocele), meningocele 

and lipomeningocele. The most common location of the

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malformations is the lumbar and sacral areas .

Myelomeningocele is the most significant form and it is this that

leads to disability in most affected individuals. The terms spina

 bifida and myelomeningocele are usually used interchangeably.Spina bifida can be surgically closed after birth, but this does not

restore normal function to the affected part of the spinal cord.

Intrauterine surgery for spina bifida has also been performed and

the safety and efficacy of this procedure is currently being

investigated. The incidence of spina bifida can be decreased by

up to 75% when daily folic acid supplements are taken prior to

conception.

Signs and symptoms

Children with spina bifida often have hydrocephalus, which

consists of excessive accumulation of cerebrospinal fluid in the

ventricles of the brain.

According to the Spina Bifida Association of America (SBAA),over 73 percent of people with spina bifida develop an allergy to

latex, ranging from mild to life-threatening. The common use of 

latex in medical facilities makes this a particularly serious

concern. The most common approach to avoid developing an

allergy is to avoid contact with latex-containing products such as

examination gloves, catheters, and many of the products used by

dentists.

Diagnosis of the different types

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Spina bifida occulta

X-ray image of Spina bifida occulta in S-1

Occulta is Latin for "hidden." This is one of the mildest forms of 

spina bifida.

In occulta, the outer part of some of the vertebrae are not

completely closed. The split in the vertebrae is so small that the

spinal cord does not protrude. The skin at the site of the lesion 

may be normal, or it may have some hair growing from it; there

may be a dimple in the skin, a lipoma, a dermal sinus or a

 birthmark .Many people with the mildest form of this type of spina bifida

do not even know they have it, as the condition is asymptomatic

in most cases. A systematic review of radiographic research

studies found no relationship between spina bifida occulta and

 back pain. More recent studies not included in the review

support the negative findings.

However, other studies suggest spina bifida occulta is not

always harmless. One study found that among patients with back 

 pain, severity is worse if spina bifida occulta is present.

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Spina Bifida Cystica

In spina bifida cystica, a cyst protrudes through the defect in the

vertebral arch. These conditions can be diagnosed in utero on

the basis of elevated levels of alpha-fetoprotein, after 

amniocentesis, and by ultrasound imaging. Spina bifida cystica

may result in hydrocephalus and neurological deficits.

Meningocele

The least common form of spina bifida is a posterior 

meningocele (or meningeal cyst).In a posterior meningocele, the vertebrae develop normally,

however the meninges are forced into the gaps between the

vertebrae. As the nervous system remains undamaged,

individuals with meningocele are unlikely to suffer long-term

health problems, although there are reports of tethered cord.

Causes of meningocele include teratoma and other tumors of the

sacrococcyx and of the presacral space, and Currarinosyndrome.

Myelomeningocele

In this, the most serious and common form, the unfused portion

of the spinal column allows the spinal cord to protrude through

an opening. The meningeal membranes that cover the spinal

cord form a sac enclosing the spinal elements. Spina bifida withmyeloschisis is the most severe form of spina bifida cystica. In

this defect, the involved area is represented by a flattened, plate-

like mass of nervous tissue with no overlying membrane. The

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exposure of these nerves and tissues make the baby more prone

to life-threatening infections.

The protruded portion of the spinal cord and the nerves which

originate at that level of the cord are damaged or not properlydeveloped. As a result, there is usually some degree of  paralysis 

and loss of sensation below the level of the spinal cord defect.

Thus, the higher the level of the defect the more severe the

associated nerve dysfunction and resultant paralysis. People may

have ambulatory problems, loss of sensation, deformities of the

hips, knees or feet and loss of muscle tone. Depending on the

location of the lesion, intense pain may occur originating in thelower back, and continuing down the leg to the back of the knee.

Many individuals with spina bifida will have an associated

abnormality of the cerebellum, called the Arnold Chiari II

malformation. In affected individuals the back portion of the

 brain is displaced from the back of the skull down into the upper 

neck. In approximately 90 percent of the people with

myelomeningocele, hydrocephalus will also occur because thedisplaced cerebellum interferes with the normal flow of 

cerebrospinal fluid.

The myelomeningocele (or perhaps the scarring due to surgery)

tethers the spinal cord. In some individuals this causes

significant traction on the spinal cord and can lead to a

worsening of the paralysis, scoliosis, back pain, or worsening

 bowel and/or bladder function.

Pathophysiology

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Spina bifida is caused by the failure of the neural tube to close

during the first month of embryonic development (often before

the mother knows she is pregnant).

 Normally the closure of the neural tube occurs around 28 daysafter fertilization. However, if something interferes and the tube

fails to close properly, a neural tube defect will occur.

Medications such as some anticonvulsants, diabetes, having a

relative with spina bifida, obesity, and an increased body

temperature from fever or external sources such as hot tubs and

electric blankets can increase the chances a woman will

conceive a baby with a spina bifida. However, most women whogive birth to babies with spina bifida have none of these risk 

factors, and so in spite of much research, it is still unknown what

causes the majority of cases.

The varying prevalence of spina bifida in different human

 populations and extensive evidence from mouse strains with

spina bifida suggests a genetic basis for the condition. As with

other human diseases such as cancer , hypertension andatherosclerosis (coronary artery disease), spina bifida likely

results from the interaction of multiple genes and environmental

factors.

Research has shown that lack of folic acid (folate) is a

contributing factor in the pathogenesis of neural tube defects,

including spina bifida. Supplementation of the mother's diet with

folate can reduce the incidence of neural tube defects by about

70 percent, and can also decrease the severity of these defects

when they occur. It is unknown how or why folic acid has this

effect.

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Spina bifida does not follow direct patterns of heredity like

muscular dystrophy or haemophilia. Studies show that a woman

who has had one child with a neural tube defect such as spina

 bifida, have about a three percent risk of having another childwith a neural tube defect. This risk can be reduced to about one

 percent if the woman takes high doses (4 mg/day) of folic acid

 before and during pregnancy. For the general population, low-

dose folic acid supplements are advised (0.4 mg/day).

Treatment

There is no known cure for nerve damage due to spina bifida. To prevent further damage of the nervous tissue and to prevent

infection, pediatric neurosurgeons operate to close the opening

on the back. During the operation for spina bifida cystica, the

spinal cord and its nerve roots are put back inside the spine and

covered with meninges. In addition, a shunt may be surgically

installed to provide a continuous drain for the cerebrospinal

fluid produced in the brain, as happens with hydrocephalus.

Shunts most commonly drain into the abdomen. However, if spina bifida is detected during pregnancy, then open fetal

surgery can be performed.

Most individuals with myelomeningocele will need periodic

evaluations by specialists including orthopedists to check on

their bones and muscles, neurosurgeons to evaluate the brain and

spinal cord and urologists for the kidneys and bladder. Such care

is best begun immediately after birth. Most affected individuals

will require braces, crutches, walkers or wheelchairs to

maximize their mobility. The higher the level of the spina bifida

defect the more severe the paralysis. Thus, those with low levels

may need only short leg braces while those with higher levels do

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 best with a wheelchair. Many will need to manage their urinary

system with a program of catheterization. Most will also require

some sort of bowel management program.

Fetal surgery clinical trials

Management of Myelomeningocele Study (MOMS) is a phase

III clinical trial to evaluate the safety and efficacy of fetal

surgery to close a myelomeningocele. This involves surgically

opening the pregnant mother's abdomen and uterus to operate on

the fetus. This route of access to the fetus is called "open fetal

surgery". Fetal skin grafts are used to cover the exposed spinalcord, to protect it from further damage caused by prolonged

exposure to amniotic fluid. The fetal surgery may decrease some

of the damaging effects of the spina bifida, but at some risk to

 both the fetus and the pregnant woman.

In contrast to the open fetal operative approach tested in the

MOMS, a minimally invasive approach has been developed by

the German Center for Fetal Surgery & Minimally InvasiveTherapy at the University of Bonn, Germany.[19] This minimally

invasive approach uses three small tubes (trocars) with an

external diameter of only 5 mm that are directly placed via small

needle punctures through the maternal abdominal wall into the

uterine cavity. Via this route, the unborn can be postured and its

spina bifida defect be closed using small instruments. In contrast

to open fetal surgery for spina bifida, the fetoscopic approachresults in barely any trauma to the mother as surgical opening of 

her abdomen and uterus is not required.

Epidemiology

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Spina bifida is one of the most common birth defects, with an

average worldwide incidence of 1–2 cases per 1000 births, but

certain populations have a significantly greater risk.

In the United States, the average incidence is 0.7 per 1000 live births. The incidence is higher on the East Coast than on the

West Coast, and higher in whites (1 case per 1000 live births)

than in blacks (0.1–0.4 case per 1000 live births). Immigrants

from Ireland have a higher incidence of spina bifida than do

nonimmigrants.

The highest incidence rates worldwide were found in Irelandand Wales, where 3–4 cases of myelomeningocele per 1000

 population have been reported during the 1970s, along with

more than six cases of anencephaly (both live births and

stillbirths) per 1000 population. The reported overall incidence

of myelomeningocele in the British Isles was 2–3.5 cases per 

1000 births. Since then, the rate has fallen dramatically with

0.15 per 1000 live births reported in 1998.

Parents of children with spina bifida have an increased risk of 

having a second child with a neural tube defect.

This condition is more likely to appear in females; the cause for 

this is unknown.

Prevention

There is no single cause of spina bifida nor any known way to

 prevent it entirely. However, dietary supplementation with folic

acid has been shown to be helpful in preventing spina bifida .

Sources of folic acid include whole grains, fortified breakfast

cereals, dried beans, leaf vegetables and fruits.

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Women who have already had a baby with spina bifida or other 

type of neural tube defect, or are taking anticonvulsant 

medication should take a higher dose of 4–5 mg/day.

Pregnancy screening

 Neural tube defects can usually be detected during pregnancy by

testing the mother's blood (AFP screening) or a detailed fetal

ultrasound. Spina bifida may be associated with other 

malformations as in dysmorphic syndromes, often resulting in

spontaneous miscarriage. However, in the majority of cases

spina bifida is an isolated malformation.Genetic counseling and further genetic testing, such as

amniocentesis, may be offered during the pregnancy as some

neural tube defects are associated with genetic disorders such as

trisomy 18. Ultrasound screening for spina bifida is partly

responsible for the decline in new cases, because many

 pregnancies are terminated out of fear that a newborn might

have a poor future quality of life. With modern medical care, thequality of life of patients has greatly improved.[14]

Spina bifida is a birth defect that involves the incomplete

development of the spinal cord or its coverings. The term spina

 bifida comes from Latin and literally means "split" or "open"

spine.

Spina bifida occurs at the end of the first month of pregnancywhen the two sides of the embryo's spine fail to join together,

leaving an open area. In some cases, the spinal cord or other 

membranes may push through this opening in the back. The

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condition usually is detected before a baby is born and treated

right away.

Types of Spina Bifida

The causes of spina bifida are largely unknown. Some evidence

suggests that genes may play a role, but in most cases there is no

familial connection. A high fever during pregnancy may

increase a woman's chances of having a baby with spina bifida.

Women with epilepsy who have taken the drug valproic acid to

control seizures may have an increased risk of having a baby

with spina bifida.

The two forms of spina bifida are spina bifida occulta and spina

 bifida manifesta.

Spina bifida occulta is the mildest form of spina bifida (occulta

means hidden). Most children with this type of defect never 

have any health problems, and the spinal cord is often

unaffected.

Spina bifida manifesta includes two types of spina bifida:

1. Meningocele involves the meninges, themembranes responsible for covering andprotecting the brain and spinal cord. If themeninges push through the hole in the

vertebrae (the small, ring-like bones that makeup the spinal column), the sac is called ameningocele.

2. Myelomeningocele is the most severe formof spina bifida. It occurs when the meninges

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push through the hole in the back, and thespinal cord also pushes though. Most babieswho are born with this type of spina bifida also

have hydrocephalus, an accumulation of fluidin and around the brain.

Because of the abnormal development of anddamage to the spinal cord, a child withmyelomeningocele typically has someparalysis. The degree of paralysis largelydepends on where the opening occurs in thespine. The higher the opening is on the back,the more severe the paralysis tends to be.

Children with spina bifida often have problems with bowel and

 bladder control, and some may have attention deficit

hyperactivity disorder (ADHD) or other learning difficulties,

such as hand-eye coordination problems.

Symptoms of Spina Bifida

Babies who are born with spina bifida occulta often have no

outward signs or symptoms. The spinal cord does not protrude

through the skin, although a patch of hair, a birthmark, or a

dimple may be present on the skin over the lower spine.

But other forms of the disease have obvious signs. Babies who

are born with the meningocele form have a fluid-filled sac

visible on the back. The sac is often covered by a thin layer of 

skin and can be as small as a grape or as large as a grapefruit.

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Babies with myelomeningocele also have a sac-like mass that

 bulges from the back, but a layer of skin may not always cover 

it. In some cases, the nerves of the spinal cord may be exposed.

A baby who also has hydrocephalus will have an enlarged head,the result of excess fluid and pressure inside the skull.

Treatment of Spina Bifida

Children with spina bifida occulta seldom need treatment.

In cases of spina bifida manifesta, treatment depends on the type

of spina bifida and its severity.

Babies with meningocele usually have an operation during

infancy in which doctors push the meninges back and close the

hole in the vertebrae. Many will have no other health problems

later unless there is nerve tissue involved with the sac.

Babies with myelomeningocele need more immediate attention

and often have surgery within the first 1 to 2 days after birth.

During this first surgery, doctors push the spine back into the

vertebrae and close the hole to prevent infection and protect the

spine.

A baby who also has hydrocephalus will need an operation to

 place a shunt in the brain. The shunt is a thin tube that helps to

relieve pressure on the brain by draining and diverting extra

fluid.

In addition, some children need subsequent surgeries to manage

 problems with their feet, hips, or spine.

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The location of the gap in the back often dictates what kind of 

adaptive aids or equipment a child with myelomeningocele will

need. Those with a gap high on the spinal column and more

extensive paralysis often need to use a wheelchair, while thosewith a gap lower on the back may be able to use crutches, leg

 braces, or walkers.

Caring for a Child With Spina Bifida

Parents of children with spina bifida receive support from a

medical team that may include several doctors (such as

neurosurgeons, urologists, orthopedic surgeons, rehabilitationspecialists, and general pediatricians), a nurse practitioner,

 physical and occupational therapists, and a social worker.

The goal is to create a lifestyle for the child and family in which

the disability interferes as little as possible with normal

everyday activities.

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Encephalocele, sometimes known by the Latin name cranium

bifidum, is a neural tube defect characterized by sac-like

 protrusions of the brain and the membranes that cover it through

openings in the skull. These defects are caused by failure of the

neural tube to close completely during fetal development.Encephaloceles cause a groove down the middle of the skull, or 

 between the forehead and nose, or on the back side of the skull.

The severity of encephalocele varies, depending on its location.

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Classifications

Encephaloceles are generally classified as nasofrontal,

nasoethmoidal, or naso-orbital, however, there can be some

overlap in the type of encephalocele. If the bulging portion

contains only cerebrospinal fluid and the overlaying membrane,

it may be called a meningocele. If brain tissue is present, it may

 be referred to as an encephalomeningocele.

Occurrence

Encephaloceles occur rarely, at a rate of one per 5,000 live

 births worldwide. Encephaloceles of the back of the head are

more common in Europe and North America, while

encephaloceles on the front of the head more frequently occur in

Southeast Asia, Africa, Malaysia, and Russia. Ethnic, genetic,and environmental factors, as well as parental age, can all affect

the likelihood of encephaloceles. The condition can occur in

families with a family history of spina bifida.

Causes

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Although the exact cause is unknown, encephaloceles are

caused by failure of the neural tube to close completely during

fetal development. Research has indicated that teratogens 

(substances known to cause birth defects), trypan blue (a stainused to color dead tissues or cells blue), and arsenic may

damage the developing fetus and cause encephaloceles.

Symptoms

Encephaloceles are often accompanied by craniofacial

abnormalities or other brain malformations. Symptoms may

include neurologic problems, hydrocephalus (cerebrospinal fluidaccumulated in the brain), spastic quadriplegia (paralysis of the

limbs), microcephaly (an abnormally small head), ataxia 

(uncoordinated muscle movement), developmental delay, vision

 problems, mental and growth retardation, and seizures.

Diagnosis

Usually encephaloceles are noticeable deformities and arediagnosed immediately after birth, but a small encephalocele in

the nasal or forehead region can go undetected. Various physical

and mental developmental delays can indicate the presence of 

encephaloceles.

Treatment

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Currently, the only effective treatment for encephaloceles is

reparative surgery, generally performed during infancy. The

extent to which it can be corrected depends on the location and

size of the encephaloceles; however large protrusions can beremoved without causing major disability. Surgery repositions

the bulging area back into the skull, removes the protrusions,

and corrects the deformities, typically relieving pressure that can

delay normal brain development. Occasionally, shunts are

 placed to drain excess cerebrospinal fluid from the brain.

The goals of treatment include:

• closure of open skin defects to prevent infection and

desiccation of brain tissue

• removal of nonfunctional extracranial cerebral tissue with

water-tight closure of the dura

• total craniofacial reconstruction with particular emphasis

on avoiding the long-nose deformity (nasal elongation that

results from depression of the cribiform plate and nasal placode). Without proper management, the long-nose

deformity can be more obvious after repair.

Proper levels of folic acid have been shown to help prevent such

defects when taken before pregnancy, and early in pregnancy. It

is recommended that women who may become pregnant take

400 micrograms of folic acid daily.

What Is an Encephalocele?

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An encephalocele (pronounced in-SEF-a-lo-seal) is a rare birth

defect. It occurs early in a woman's pregnancy when part of the

developing baby's skull does not close completely. Part of the

 baby's brain may come through the hole in the skull. Sometimes, part of the membrane that covers the brain and spinal

 Normally, a baby's brain and spinal cord (central nervous

system) develop inside a structure called the neural tube. When

the neural tube does not close properly, part of the brain may

stick outside the neural tube. Either skin or a thin membrane

covers the portion of the brain that is outside the skull. Doctors

call this covering a sac.

An encephalocele can be located:

• In the base of the skull

• In the area of the nose, sinuses and forehead

• From the top of the skull around to the back of the skull at

the midline

Encephalocele in Children

Encephaloceles are rare. The problem occurs in only about one

of 5,000 babies born worldwide. The rate may be even lower in

 North America. Encephaloceles have other common

characteristics:

• Girls are more likely to have an encephalocele in the back (occipital) area of their skull.

• Boys are more likely to have an encephalocele in the front

of their skull.

Symptoms of Encephalocele

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Some babies with encephaloceles have other problems with their 

skulls and brains. These accompanying symptoms and

conditions include:

• Too much cerebrospinal fluid in parts of their brains(hydrocephalus)

• Very small head (microcephaly)

• Seizures

• Problems with their vision

• Delayed growth and development

• Learning difficulties

• Spasticity or other movement disorders

Encephalocele Diagnosis

Usually doctors can see an encephalocele when a baby is born.

Sometimes, they may not see a small encephalocele right away.

These small encephaloceles are usually located in the area of the

 baby's nose, forehead and sinuses.

Doctors think the genes a baby inherits might play a role in

causing an encephalocele. The condition happens more often infamilies that have a history of neural tube defects called spina

 bifida and anencephaly.

Encephalocele treatment in most cases is surgery to put the part

of the brain that is outside the skull back into place and close the

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opening. Neurosurgeons often can repair even large

encephaloceles without causing your baby to lose further ability

to function.

Surgery for Encephalocele

Usually, neurosurgeons repair encephaloceles within the first

few months of your baby's life. If skin covers your baby's

encephalocele, giving it some protection, the neurosurgeon may

recommend waiting for a few months. If there is no skin

 protecting the encephalocele, your baby's neurosurgeon may

recommend surgery soon after birth.While treating an encephalocele, neurosurgeons perform an

operation called craniotomy

. This allows them to get to your child's brain. During a

craniotomy, the neurosurgeon cuts and removes a piece of bone

from the skull. Next, the neurosurgeon cuts the tough membrane

that protects the brain (dura mater 

).

To treat an encephalocele, the neurosurgeon then replaces the

 brain tissue and any membranes or fluids that have come out of 

the gap in the skull. They remove the sac that surrounded it.

Then the neurosurgeon closes the dura mater. They close up the

skull using the same piece of bone they removed, if possible. If there is a large hole in the skull, the neurosurgeon may use an

artificial plate to repair the area.

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What is hydrocephalus?

The term hydrocephalus is derived from the Greek words

"hydro" meaning water and "cephalus" meaning head. As thename implies, it is a condition in which the primary

characteristic is excessive accumulation of fluid in the brain.

Although hydrocephalus was once known as "water on the

 brain," the "water" is actually cerebrospinal fluid (CSF) - a clear 

fluid that surrounds the brain and spinal cord. The excessive

accumulation of CSF results in an abnormal widening of spaces

in the brain called ventricles. This widening creates potentiallyharmful pressure on the tissues of the brain.

The ventricular system is made up of four ventricles connected

 by narrow passages. Normally, CSF flows through the

ventricles, exits into cisterns (closed spaces that serve as

reservoirs) at the base of the brain, bathes the surfaces of the

 brain and spinal cord, and then reabsorbs into the bloodstream.

CSF has three important life-sustaining functions: 1) to keep the

 brain tissue buoyant, acting as a cushion or "shock absorber"; 2)

to act as the vehicle for delivering nutrients to the brain and

removing waste; and 3) to flow between the cranium and spine

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and compensate for changes in intracranial blood volume (the

amount of blood within the brain).

The balance between production and absorption of CSF is

critically important. Because CSF is made continuously, medicalconditions that block its normal flow or absorption will result in

an over-accumulation of CSF. The resulting pressure of the fluid

against brain tissue is what causes hydrocephalus.

What are the different types of 

hydrocephalus?

Hydrocephalus may be congenital or acquired. Congenital

hydrocephalus is present at birth and may be caused by either 

events or influences that occur during fetal development, or 

genetic abnormalities. Acquired hydrocephalus develops at the

time of birth or at some point afterward. This type of 

hydrocephalus can affect individuals of all ages and may be

caused by injury or disease.

Hydrocephalus may also be communicating or non-

communicating. Communicating hydrocephalus occurs when the

flow of CSF is blocked after it exits the ventricles. This form is

called communicating because the CSF can still flow between

the ventricles, which remain open. Non-communicating

hydrocephalus - also called "obstructive" hydrocephalus - occurs

when the flow of CSF is blocked along one or more of the

narrow passages connecting the ventricles. One of the most

common causes of hydrocephalus is "aqueductal stenosis." In

this case, hydrocephalus results from a narrowing of the

aqueduct of Sylvius, a small passage between the third and

fourth ventricles in the middle of the brain.

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There are two other forms of hydrocephalus which do not fit

exactly into the categories mentioned above and primarily affect

adults: hydrocephalus ex-vacuo and normal pressure

hydrocephalus.

Hydrocephalus ex-vacuo occurs when stroke or traumatic

injury cause damage to the brain. In these cases, brain tissue

may actually shrink. Normal pressure hydrocephalus can happen

to people at any age, but it is most common among the elderly.

It may result from a subarachnoid hemorrhage, head trauma,

infection, tumor , or complications of surgery. However, many

 people develop normal pressure hydrocephalus even when noneof these factors are present for reasons that are unknown.

Who gets this disorder?

The number of people who develop hydrocephalus or who are

currently living with it is difficult to establish since there is no

national registry or database of people with the condition.

However, experts estimate that hydrocephalus affectsapproximately 1 in every 500 children.

What causes hydrocephalus?

The causes of hydrocephalus are still not well understood.

Hydrocephalus may result from inherited genetic abnormalities 

(such as the genetic defect that causes aqueductal stenosis) or 

developmental disorders (such as those associated with neuraltube defects including spina bifida and encephalocele). Other 

 possible causes include complications of premature birth such as

intraventricular hemorrhage, diseases such as meningitis,

tumors, traumatic head injury, or subarachnoid hemorrhage,

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which block the exit of CSF from the ventricles to the cisterns or 

eliminate the passageway for CSF into the cisterns.

What are the symptoms of hydrocephalus?

Symptoms of hydrocephalus vary with age, disease progression,

and individual differences in tolerance to the condition. For 

example, an infant's ability to compensate for increased CSF

 pressure and enlargement of the ventricles differs from an

adult's. The infant skull can expand to accommodate the buildup

of CSF because the sutures (the fibrous joints that connect the

 bones of the skull) have not yet closed. In infancy, the mostobvious indication of hydrocephalus is often a rapid increase in

head circumference or an unusually large head size.

Other symptoms may include vomiting, sleepiness, irritability,

downward deviation of the eyes (also called "sunsetting"), and

seizures. Older children and adults may experience different

symptoms because their skulls cannot expand to accommodate

the buildup of CSF.

Symptoms may include headache followed by vomiting, nausea,

 papilledema (swelling of the optic disk which is part of the optic

nerve), blurred or double vision, sunsetting of the eyes,

 problems with balance, poor coordination, gait disturbance,

urinary incontinence, slowing or loss of developmental progress,

lethargy, drowsiness, irritability, or other changes in personality

or cognition including memory loss.

Symptoms of normal pressure hydrocephalus include, problems

with walking, impaired bladder control leading to urinary

frequency and/or incontinence, and progressive mental

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impairment and dementia. An individual with this type of 

hydrocephalus may have a general slowing of movements or 

may complain that his or her feet feel "stuck." Because some of 

these symptoms may also be experienced in other disorders suchas Alzheimer's disease, Parkinson's disease, and Creutzfeldt-

Jakob disease, normal pressure hydrocephalus is often

incorrectly diagnosed and never properly treated. Doctors may

use a variety of tests, including brain scans (CT and/or MRI), a

spinal tap or lumbar catheter, intracranial pressure monitoring,

and neuropsychological tests, to help them accurately diagnose

normal pressure hydrocephalus and rule out any other 

conditions. The symptoms described in this section account for the most typical ways in which progressive hydrocephalus

manifests itself, but it is important to remember that symptoms

vary significantly from one person to the next.

How is hydrocephalus diagnosed?

Hydrocephalus is diagnosed through clinical neurological

evaluation and by using cranial imaging techniques such as

ultrasonography, computed tomography (CT), magnetic

resonance imaging (MRI), or pressure-monitoring techniques. A

 physician selects the appropriate diagnostic tool based on an

individual's age, clinical presentation, and the presence of 

known or suspected abnormalities of the brain or spinal cord.

What is the current treatment forhydrocephalus?

Hydrocephalus is most often treated by surgically inserting a

shunt system. This system diverts the flow of CSF from the

CNS to another area of the body where it can be absorbed as

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 part of the normal circulatory process. A shunt is a flexible but

sturdy plastic tube. A shunt system consists of the shunt, a

catheter, and a valve. One end of the catheter is placed within a

ventricle inside the brain or in the CSF outside the spinal cord.The other end of the catheter is commonly placed within the

abdominal cavity, but may also be placed at other sites in the

 body such as a chamber of the heart or areas around the lung

where the CSF can drain and be absorbed. A valve located along

the catheter maintains one-way flow and regulates the rate of 

CSF flow. A limited number of individuals can be treated with

an alternative procedure called third ventriculostomy. In this

 procedure, a neuroendoscope - a small camera that uses fiber optic technology to visualize small and difficult to reach surgical

areas - allows a doctor to view the ventricular surface. Once the

scope is guided into position, a small tool makes a tiny hole in

the floor of the third ventricle, which allows the CSF to bypass

the obstruction and flow toward the site of resorption around the

surface of the brain.

What is Chiari Malformation?

Chiari malformations (CMs) are structural defects in the

cerebellum, the part of the brain that controls balance. When the

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indented bony space at the lower rear of the skull is smaller than

normal, the cerebellum and brainstem can be pushed downward.

The resulting pressure on the cerebellum can block the flow of 

cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms

including dizziness, muscle weakness, numbness, vision

 problems, headache, and problems with balance and

coordination. There are three primary types of CM. The most

common is Type I, which may not cause symptoms and is often

found by accident during an examination for another condition.

Type II (also called Arnold-Chiari malformation) is usually

accompanied by a myelomeningocele-a form of spina bifida thatoccurs when the spinal canal and backbone do not close before

 birth, causing the spinal cord to protrude through an opening in

the back. This can cause partial or complete paralysis below the

spinal opening. Type III is the most serious form of CM, and

causes severe neurological defects. Other conditions sometimes

associated with CM include hydrocephalus, syringomyelia, and

spinal curvature.

Is there any treatment?

Medications may ease certain symptoms, such as pain. Surgery

is the only treatment available to correct functional disturbances

or halt the progression of damage to the central nervous system.

More than one surgery may be needed to treat the condition.

What is the prognosis?

Many people with Type I CM are asymptomatic and do not

know they have the condition. Many patients with the more

severe types of CM and have surgery see a reduction in their 

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symptoms and/or prolonged periods of relative stability,

although paralysis is generally permanent.

Arnold-Chiari malformation is a malformation of the brain. It

consists of a downward displacement of the cerebellar vermis and the medulla through the foramen magnum, sometimes

causing hydrocephalus as a result of obstruction of cerebrospinal 

fluid (CSF) outflow [2]. The cerebrospinal fluid outflow is caused

 by phase difference in outflow and influx of blood in the

vasculature of the brain. It can cause headaches, fatigue, muscle

weakness in the head and face, difficulty swallowing, dizziness,

nausea, impaired coordination, and paralysis.

Symptoms

Valsalva maneuvers, such as yawning, laughing, crying,

coughing, sneezing or straining. Chiari also includes muscle

weakness, facial pain, hearing problems, and extreme fatigue. It

also can cause insomnia cycles of sleep deprivation followed by

inabilities to remain awake cycling between them. 15% of  patients with adult Chiari malformation are asymptomatic.

Treatment

Once symptomatic onset occurs, a common treatment is

decompression surgery, in which a neurosurgeon usuallyremoves the lamina of the first and sometimes the second or 

even third cervical vertebrae and part of the occipital bone of the

skull to relieve pressure. The flow of spinal fluid may be

accompanied by a shunt. Since this surgery usually involves the

opening of the dura mater and the expansion of the space

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 beneath, a dural graft is usually applied to cover the expanded

 posterior fossa.

A small number of neurological surgeons believe that

detethering the spinal cord as an alternate approach relieves thecompression of the brain against the skull opening (foramen

magnum), obviating the need for decompression surgery and

associated trauma. However, this approach is significantly less

documented in the medical literature, with reports on only a

handful of patients. It should be noted that the alternative spinal

surgery is also not without risk.

On April 24, 2009, a young patient with Type 1 Chiari

malformation was successfully treated with an minimally

invasive endoscopic transnasal procedure by Dr. Richard

Anderson at the Columbia University Medical Center 

Department of Neurosurgery.[17]

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Brachial plexus palsy: Paralysis of the arm due to an injury tothe brachial plexus, a network of spinal nerves that originates in

the back of the neck, extends through the axilla (armpit), and

gives rise to nerves to the upper limb. The brachial plexus is

formed by the union of portions of the fifth through eighth

cervical nerves and the first thoracic nerve, all of which come

from the spinal cord.

Brachial plexus palsy is subdivided into upper and lower,depending on which trunk of the plexus is injured. Upper 

 brachial plexus paralysis is called Erb palsy while lower brachial

 plexus paralysis is called Klumpke palsy. There can also be total

 brachial plexus palsy.

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What are Brachial Plexus Injuries?

The brachial plexus is a network of nerves that conducts signals

from the spine to the shoulder, arm, and hand. Brachial plexus

injuries are caused by damage to those nerves. Symptoms mayinclude a limp or paralyzed arm; lack of muscle control in the

arm, hand, or wrist; and a lack of feeling or sensation in the arm

or hand. Brachial plexus injuries can occur as a result of 

shoulder trauma, tumors, or inflammation. There is a rare

syndrome called Parsonage-Turner Syndrome, or brachial 

 plexitis, which causes inflammation of the brachial plexus

without any obvious shoulder injury. This syndrome can beginwith severe shoulder or arm pain followed by weakness and

numbness. In infants, brachial plexus injuries may happen

during birth if the baby’s shoulder is stretched during passage in

the birth canal

The severity of a brachial plexus injury is determined by the

type of damage done to the nerves. The most severe type,

avulsion, is caused when the nerve root is severed or cut fromthe spinal cord. There is also an incomplete form of avulsion in

which part of the nerve is damaged and which leaves some

opportunity for the nerve to slowly recover function.

 Neuropraxia, or stretch injury, is the mildest type of injury

 Neuropraxia damages the protective covering of the nerve,

which causes problems with nerve signal conduction, but does

not always damage the nerve underneath.

Is there any treatment?

Some brachial plexus injuries may heal without treatment. Many

children who are injured during birth improve or recover by 3 to

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4 months of age. Treatment for brachial plexus injuries includes

 physical therapy and, in some cases, surgery.

What is the prognosis?

The site and type of brachial plexus injury determines the

 prognosis. For avulsion and rupture injuries, there is no potential

for recovery unless surgical reconnection is made in a timely

manner. The potential for recovery varies for neuroma and

neuropraxia injuries. Most individuals with neuropraxia injuries

recover spontaneously with a 90-100% return of function.

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What Is Meningitis?

Meningitis is an inflammation of the meninges, the membranes

that cover the brain and spinal cord. It is usually caused by

 bacteria or viruses, but it can also be caused by certain

medications or illnesses.

Bacterial meningitis is rare, but is usually serious and can be

life-threatening if it's not treated right away. Viral meningitis 

(also called aseptic meningitis) is relatively common and far 

less serious. It often remains undiagnosed because its symptoms

can be similar to those of the common flu.

Kids of any age can get meningitis, but because it can be easily

spread between people living in close quarters, teens, college

students, and boarding-school students are at higher risk for 

infection.

If dealt with promptly, meningitis can be treated successfully.

So it's important to get routine vaccinations, know the signs of meningitis, and if you suspect that your child has the illness,

seek medical care right away.

Causes of Meningitis

Many of the bacteria and viruses that cause meningitis are fairly

common and are typically associated with other routine

illnesses. Bacteria and viruses that infect the skin, urinarysystem, gastrointestinal or respiratory tract can spread by the

 bloodstream to the meninges through cerebrospinal fluid, the

fluid that circulates in and around the spinal cord.

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In some cases of bacterial meningitis, the bacteria spread to the

meninges from a severe head trauma or a severe local infection,

such as a serious ear infection (otitis media) or nasal sinus

infection (sinusitis).Bacterial and Viral Types

Many different types of bacteria can cause bacterial meningitis.

In newborns, the most common causes are Group B

 streptococcus, Escherichia coli, and   Listeria monocytogenes. In

older kids, Streptococcus pneumoniae (pneumococcus) and

 Neisseria meningitidis (meningococcus) are more often thecauses.

Another bacteria, Haemophilus influenza type b (Hib), can also

cause the illness but because of widespread childhood

immunization, these cases are now rarer.

Similarly, many different viruses can lead to viral meningitis,

including enteroviruses (such as coxsackievirus, poliovirus, andhepatitis A) and the herpesvirus.

Symptoms of Meningitis

The symptoms of meningitis vary and depend both on the age of 

the child and on the cause of the infection. Because the flu-like

symptoms can be similar in both types of meningitis,

 particularly in the early stages, and bacterial meningitis can bevery serious, it's important to quickly diagnose an infection.

The first symptoms of bacterial or viral meningitis can come on

quickly or surface several days after a child has had a cold and

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runny nose, diarrhea and vomiting, or other signs of an

infection. Common symptoms include:

• fever 

• lethargy (decreased consciousness)

• irritability

• headache

•  photophobia (eye sensitivity to light)

• stiff neck 

• skin rashes

• seizures

Meningitis in Infants

Infants with meningitis may not have those symptoms, and

might simply be extremely irritable, lethargic, or have a fever.

They may be difficult to comfort, even when they are picked upand rocked.

Other symptoms of meningitis in infants can include:

•  jaundice (a yellowish tint to the skin)

• stiffness of the body and neck (neck rigidity)

• fever or lower-than-normal temperature

•  poor feeding

• a weak suck 

• a high-pitched cry

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•  bulging fontanelles (the soft spot at the top/front of the

 baby's skull)

Viral meningitis tends to cause flu-like symptoms, such as fever 

and runny nose, and may be so mild that the illness goesundiagnosed. Most cases of viral meningitis resolve completely

within 7 to 10 days, without any complications or need for 

treatment.

Treatment

Because bacterial meningitis can be so serious, if you suspect

that your child has any form of meningitis, it's important to see

the doctor right away.

If the doctor suspects meningitis, he or she will order laboratory

tests to help make the diagnosis. The tests will likely include a

lumbar puncture (spinal tap) to collect a sample of spinal fluid.

This test will show any signs of inflammation, and whether a

virus or bacteria is causing the infection.

A child who has viral meningitis may be hospitalized, although

some kids are allowed to recover at home if they are not too ill.

Treatment, including rest, fluids, and over-the-counter pain

medication, is given to relieve symptoms.

If bacterial meningitis is diagnosed — or even suspected — 

doctors will start intravenous (IV) antibiotics as soon as possible. Fluids may be given to replace those lost to fever,

sweating, vomiting, and poor appetite, and corticosteroids may

help reduce inflammation of the meninges, depending on the

cause of the disease.

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Possible Complications

Complications of bacterial meningitis can require additional

treatment. For example, anticonvulsants might be given for 

seizures. If a child develops shock or low blood pressure,

additional IV fluids and certain medications may be given to

increase blood pressure. Some kids may need supplemental

oxygen or mechanical ventilation if they have difficulty

 breathing.

Some patients who have had meningitis may require longer 

follow-up. One of the most common problems resulting from bacterial meningitis is impaired hearing, and kids who've had

 bacterial meningitis should have a hearing test following their 

recovery.

The complications of bacterial meningitis can be severe and

include neurological problems such as hearing loss, visual

impairment, seizures, and learning disabilities. The heart,

kidneys, and adrenal glands also may be affected. Althoughsome kids develop long-lasting neurological problems, most

who receive prompt diagnosis and treatment recover fully.

How Does Meningitis Spread?

Most cases of meningitis — both viral and bacterial — result

from infections that are contagious, spread via tiny drops of 

fluid from the throat and nose of someone who is infected. Thedrops may become airborne when the person coughs, laughs,

talks, or sneezes. They then can infect others when people

 breathe them in or touch the drops and then touch their own

noses or mouths.

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Sharing food, drinking glasses, eating utensils, tissues, or towels

all can transmit infection as well. Some infectious organisms can

spread through a person's stool, and someone who comes in

contact with the stool — such as a child in day care — maycontract the infection.

The infections most often spread between people who are in

close contact, such as those who live together or people who are

exposed by kissing or sharing eating utensils. Casual contact at

school or work with someone who has one of these infections

usually will not transmit the infectious agent.

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