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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be withdrawn during insertion.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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