CONGENITAL HEART DISEASES

Iman Sulaiman Al-Hatmi85569

Done by :

Objectives

Classification of CHD Pathophysiological changes in circulation

that occurs after birth Innocent murmur vs. pathological murmur Maternal illness that can result in CHD Appropriate investigations Management options Indications for infective endocarditis

prophylaxis

Case Scenario

A 5-year old boy brought by his mother to the health center for pre school check up.

The child has bee seen previously in the health center for immunization and for

minor acute respiratory infection.

At this visit the physical examination reveals a systolic murmur for the first time.

History

Cardinal cardiac symptoms: congestive heart failure (FTT, breathlesness, poor feeding, cyanosis, sweating, syncope …)

PMH: rheumatic fever, recurrent chest infections FHx: of hypertrophic cardiomyopathy, congenital

heart disease or unexplained childhood/early adulthood death is of importance.

Perinatal Hx: of premature birth, maternal diabetes, drug or toxin ingestion and intrauterine infection is relevant.

Physical Examination Dysmorphism and congenital anomalies. Presence of anomalies of

other organ systems associated with CHD in as many as 25% of cases.

Child's growth and development CVS:

Cyanosis, cool periphries. arterial pulse, perfusion, delay , BP, HR, edema Precordiam:

Inspection, palpation Auscultation in the four different areas ( heart sounds, murmurs, and for

additional sounds, clicks) A crucial in children is to characterise the second heart sound and its

components. Auscultation over the back, the axillae and the neck. Variations of murmurs and heart sounds with position (supine, sitting, standing)

RS: pulmonary edema (crackles, wheeze)

Abd: organomegaly (HF)

Circulatory changes at birth

In the fetus:

Circulatory changes at birth

With 1st breaths:

Definition

CHD: group of anatomic abnormalities of the heart that are generally present at birth.

Ranges from asymptomatic to fatal The most common group of

structural malformations in children.

Occur in 8 per 1000 births

Incidence and spectrum of congenital heart disease in Oman Hospital-based study analysed the incidence and spectrum

of congenital heart disease (CHD) in the Sultanate of Oman from 1994 to 1996.

CHD was detected in 992 of 139,707 live births (incidence 7.1/1000 live births).

The common CHDs were VSD (24.9%), ASD (14.4%) and PDA (10.3%).

The frequency of AV septal defects (5.9%) was higher than reported from other countries.

Age at diagnosis was under 1 month in 38% and 1-12 months in 40%.

Cyanotic CHD was found in 21.7% of the whole group and 35% of neonates. Incidence and spectrum of congenital heart disease in Oman.

Subramanyan R, Joy J, Venugopalan P, Sapru A, al Khusaiby SM.Ann Trop Paediatr. 2000 Dec;20(4):337-41.

Causes of CHD

Cause example

Maternal disorder Rubella infection SLEDM

Maternal drugs Warfarin therapy Fetal alcohol syndrome Sodium valproate Phenytoin

Chromosomal abnormalities Down syndrome(trisomy 21)Edward’s syndrome(trisomy 18)Patau’s syndrome(trisomy 13)Turner’s syndrome(45XO)William’s syndrome (chromosome 7 microdeletion)Chromosome 22q11.2 deletion

Presentation

Antenatal cardiac ultrasound diagnosis Heart murmur (most common) Cyanosis Heart failure Shock (severe L heart obstruction)

Heart murmurs

Vast majority of children with murmurs have a normal heart, ‘Innocent murmur’, from turbulent flow in great vessels outflow tracts.

2 types of innocent murmur: Ejection murmur

turbulent blood flow in the ventricle, outflow tract or great vessels

not associated with structural abnormalities Venous hum

turbulent blood flow in head & neck veins continuous low pitched rumble heard beneath either

clavicle. Increase on inspiration, louder after exercise. Distinguished from PDA by its disappearance on lying

flat/ with compression of jugular veins on same side.

Cont.

7 S’s :

Soft (low amplitude)

Short

Systolic

Single (no click/gallop)

Sensitive (to posture)

left Sternal edge

aSymptomatic

Hallmarks of innocent ejection murmur:

Soft blowing systolic ( usually from R side pulmonary outflow in 2nd L interspace) OR short buzzing ( usually from L side aortic blood flow in 4th L interspace)

Localized to L sternal edge No diastolic component Normal heart sound with no added

sounds No parasternal thrill No radiation Asymptomatic pt

Cyanosis

Concentration of reduced Hb > 5 g/dL Cardiac cyanosis may be caused by:

Reduced pulmonary blood flow Duct-dependent pulmonary circulation relies on blood flowing

from L to R across ductus arteriosus Abnormal mixing of systemic venous & pulmonary blood

(transposition of great arteries)

Most infants with cyanotic heart disease in 1st few days of life are duct-dependent

The key to early survival is Maintenance of ductal patency with IV prostaglandin ‘PGE’

Classification

Acyanotic Acyanotic

Cyanotic Cyanotic

1-Left- to –right shunt•Ventricular septal defect (VSD)•Persistant ducus arteriosus (PDA)•Atrial septal defect(ASD)•Atrioventricular septal defect AVSD(endocardial cushion defect)

2-Obstructive lesions •Pulmonary stenosis (PS)•Aortic stenosis (AS)•Coarctation of the aorta (COA)

Cyanotic (right-to-left shunt)

•Teratology of fallot •Transposition of great artieries •Truncus arteriosus •Tricuspid atresia •Total anomalous pulmonary venous drainage

Left-to-right shunt

breathlessness, feeding

difficulty, recurrent chest

infections

Atrial Septal Defect

ASD

Due to failure of septal growth or excessive reabsorption of tissue.2 main types:Secundum ASD

defect in the center of the atrial septum involving the foramen ovale.

Partial AV septal defect (primum ASD) defect of the AV septum characterized by:

An inter-atrial communication between the bottom end of the atrial septum and the AV valves (primum ASD)

Abnormal AV valve which has 3 leaflets and tend to leak ( regurgitant valve)

Cont.

Symptoms: Rarely symptomatic Recurrent chest

infections/wheeze HF

Physical signs: Fixed splitting of

S2 .. ? Ejection systolic

murmur over the pulmonary area ..?

Mid-diastolic murmur at the left lower sternal border .. ?

ASD.. Investigations

Chest X-ray: Cardiomegaly Right atrial enlargement Enlarged pulmonary arteries Increased pulmonary vascular markings

ECG:

Croee-sectional echocardiography

ASD.. Management

Children with significant ASD (shunt is still present at around 3yr of age) will require treatment :

Secundum ASD by cardiac cathetrization with insertion of an occlusion device

Partial AVSD by surgical correction

Treatment undertaken at 3-5 yrs of age to prevent RHF & arrhythmias

in later life.

Ventricular Septal Defect

Ventricular septal defect

The most common CHD (30%) Occur when there is a defect

anywhere in the vetricular septum usually perimembranous (adjacent to tricuspid valve)or muscular septum.

The size of the VSD affects the clinical presentation

Small VSD: smaller than aortic valve, up to 3mm

Large VSD: same/bigger than aortic valve.

Small VSD

Large VSD

Small VSD

Clinical features:Symptoms:

AsymptomaticPhysical signs:

May have thrill at lower sternal edge

Loud pansystolic murmur at lower left sternal edge

Investigations:•Chest X-ray:

-Normal•ECG:

-Normal•Echocardiography:

-Show the defect - Doppler echocardiography to asses the hemodynamic effect

Management: Most of these lesions will close spontaneously by 3

years of age ( conformed by disappearance of murmur, normal ECG, normal echocardiogram)

Large VSD

Clinical features:Symptoms: ( 2-4 wks)

HF with breathlessness, poor feeding, diaphoresis & FTT

Recurrent chest infection

• Physical Signs:-Soft pansystolic murmur or no murmur-Apical –mid diastolic murmur-Loud and palpable P2-Left parasternal heave-Tachypnea ,Tachycardia -Enlarged liver

Cont.

Investigations:Chest X-ray:

Cardiomegaly Enlarged

pulmonary arteries Increased

pulmonary vascular marking

Pulmonary congestion

• ECG:– Biventricular

hypertrophy• Echocardiogram:

– Demonstrates the anatomy of the defect, hemodynamic effects , severity of pulmonary hypertension.

cardiomegaly

Increased pulm

markings

Enlarged pulm

arteries

Cont.

Management: Anti-heart failure therapy: diuretics,

digoxin, ACE inhibitors If symptoms are controlled and

pulmonary HTN dose not develop> follow up

Continued poor growth and pulmonary HTN despite therapy > surgical closure

Patent Ductus Arteriosus

PDA

The ductus arteriosus allows blood to flow from the pulmonary artery to the aorta during fetal life. This changes to the opposite after birth.

In term infants, it normally closes shortly after birth. Failure of the normal closure of it by a month post term is due to a defect in the constrictor mechanism of the duct.

In preterm infants, the PDA is not

from CHD but due to prematurity.

Cont.

Clinical features:Symptoms:

Small PDA: asymtomatic Large PDA: HF

Physical signs: High volume collapsing

pulse Widened pulse pressure Loud S2 Continuous murmur

(beneath left clavicle)

Investigation:Small PDA> normal X-ray and ECGLarge PDA:

Chest X-ray: Cardiomegaly Pulmonary congestion

ECG: Left ventricular

hypertrophy If pulmonary HTN>

right ventricular hypertrophy

Echocardiography

Management:Closure with a coil or occlusion device introduced via a cardiac catheter at about 1 year of age.

Complete AV septal defect

cAVSD

A combination of several closely associated heart problems that result in a large defect in the center of the heart:

Defects include holes such as ASD, VSD and abnormalities of the AV valves.

Blood can move freely among the four heart chambers, mixing oxygen-rich (red) blood with oxygen-poor (blue) blood.

The condition is common in children with    Down syndrome (about 20%).

Cont.

Clinical features: Pulmonary HTN As the pressure in the lungs rises, blood within the heart will eventually

"shunt" through the septal openings from right heart to the left. This allows oxygen-poor (blue) blood to reach the body, and cyanosis will be noted.

Investigations:Chest X-ray:

Cardiomegaly with enlargement of all chamber ECG:

Superior axis Combined ventricular hypertrophy

Echocardiography

Treatment: Treat HF medically & surgical repair at 3-6 months of age.

Summary.. L-to-R shunt

lesionSymptomssignsmanagement

ASD-secundumNoneEjection systolic murmur at ULSE

Catheter device closure at 3-5 yrs

ASD-partialNone, HFFixed split S2Surgery at 3 yrs

VSD-small (80-90%)

NonePansystolic murmur at LLSE

None

VSD-large(10-20%)

HFLoud P2, soft murmur, tachypnoea, hepatomegaly

Diuretics, captoprilSurgery at 3-6 months

PDA-temNoneContinous murmur at ULSE +/- bounding pulses

Coil/device closure at cardiac catheter

PDA-pretermNone, HFSystolic murmur at ULSE +/- bounding pulses

Fluid restriction, surgical ligation

Outflow Obstruction

Pulmonary Stenosis

PS

Site: Valvar (most), supravalvar, or subvalvar The valve may have

only two or one leaflets The leaflets that are

partially fused together

Three leaflets, but thick and partly or completely stuck together

narrowing of the valve

Pathophysiology

The right ventricle pump harder and at a higher

pressure to propel blood through the valve

Right ventricular hypertrophy

Pulmonary valve is mildly to moderately

narrowed

severe stenosis in a neonate

Right ventricle cannot eject sufficient volume of blood flow into the pulmonary

artery

Right ventricular pressure becomes extremely high

cyanosis

Lead to right-to-left shunting through a patent foramen ovale/atrial septal defect

delay the closure of the foramen ovale

Cont.

Clinical features: Symptoms: Mild PS:

asymptomatic Moderate- severe

PS: exertional dyspnea

and easy fatigability. Newborn with severe

stenosis may be more symptomatic and even cyanotic because of right-to- left shunting at the atrial level.

Physical signs: Ejection systolic

murmur over the pulmonary area that radiate to the back

Systolic thrill over the pulmonary area

S2 widely splitting Left parasternal

heave (RV hypertrophy)

Ejection click that audible in inspiration

Cont.

Investigations:Mild PS > normal X-ray and ECGSevere PS:

Chest X-ray: normal or post-

stenotic dilatation of the main pulmonary artery

- ECG: RVH

Management:Indicated for moderate to severe cases Treatment measures designed to maintain the patency of the ductus arteriosus > used as palliative measure to maintain or increase pulmonary blood flow in infants with sever pulmonary stenosis Trans-catheter balloon dilatation is the treatment of choice (when pressure gradient across pulmonary valve > 64mmHg)

Aortic stenosis

AS

Valvular, subvalvular or supravulvalar

Failure of : development of

the three leaflets Resorption of

tissue around the valve

Cont.

Clinical features:Mild- moderate AS > asymptomatic Severe AS:

Symptoms:Easy fatigabilityExcertional chest painSyncopeInfants> symptoms of HF

Physical signs: Ejection systolic

murmur over the aortic area and radiating to the neck

Carotid thrill (always)

Apical ejection click

Cont.

Investigations: Chest x-ray:

Normal or prominent left ventricle with post- stenotic dilation of the ascending aorta

ECG: LVH

Echocardiography

Managements:The degree of aortic stenosis frequently progress with growth and age > regular clinical and echocardiographic assessments.Balloon valvotomy > children with Sx on exercise or who have high resting pressure gradient (>64mmHg) across aortic valve.Balloon dilatation in older children is safe, but in neonates much more difficult & dangerous.

Coarctation of Aorta

COA Narrowing of the aorta at the

junction of the arch with descending aorta preductal or postductal(98%).

2X more common in males 25% of patients with Turner’s

Syndromehave coarctation of aorta

Associated Defects: Bicuspid aortic valve (most

commonassociated defect seen in 50%)

VSD ASD

Cont.

Clinical features:Symptoms:

Less severe: no symptoms In severe cases the blood

supply to the descending aorta comes through ductus arteriosus> when it close in the first week of life baby present with shock, respiratory distress & poor feeding.

HF in neonatal period Older children are usually

asymptomatic but may present with leg discomfort with exercise , headache, epistaxis or HTN.

Physical signs: Radio-femoral delay Weak pulse in the lower

extremities Bounding pulse of the

arms and carotid vessels. Fall in systolic BP in the

lower extremities compared to the upper extremities.

Systemic HTN in the upper extremities

Loud aortic S2 Systolic ejection murmur Systolic ejection click

Cont.

Investigations:CXR : rib notching with large collateralsECG: LVH

Managements:Infants: intravenous infusion of prostaglandin E1 , inotropic agents, diuretics.Balloon angioplasty and stentingSurgical repair

Summary

Lesion Signs Management

Aortic stenosis • Murmur: upper R sternal edge• carotid thrill

Ballon dilatation

Pulmonary stenosis•Murmur: upper L sternal edge• no carotid thrill

Ballon dilatation

Coarctation of aorta

• systemic HPT•Radio-femoral delay

Stent insertion or surgery

Cyanotic CHD

Cyanotic (right-to-left shunt) Occurs when the systemic venous return

crosses from the right side to the left side of the heart and returns to the body without going through the lungs.

Examples: Teratology of fallot Transposition of great artieries Truncus arteriosus Tricuspid atresia Total anomalous pulmonary venous drainage

Teratology of fallot

Teratology of fallot

Cont.

Clinical features:Symptoms:

Vary widely (cyanosis) and depend mainly on the severity of pulmonary stenosis.

Infancy: cyanosis SOB on exertion (feeding ) hyper-cyanotic spells : periods of increasing

cyanosis associated with inconsolable crying , fast breathing and irritability (may lead to unconsciousness , anoxic seizures, MI, cerebrovascular accidents, death)

Older children: effort intolerance and squatting

Cont.

Physical signs: Central cyanosis Clubbing of the fingers and toes Loud harsh ejection systolic murmur

initially and then with increasing severity of pulmonary stenosis the murmur become shorter and softer.

Single second heart sound (A2)

Cont.

Investigations:Chest X-ray:

Boot-shaped heart ( caused by small main pulmonary artery and upturned apex secondary to RVH)

Pulmonary oligemia> decreased pulmonary vascular marking

ECG: RVH LAD

Echocardiography

Cont.

Management:Hypoxic spells:

Oxygen administration Placing the child in the

knee- chest position Morphine > to relaxe

the pulmonary infundibulum and for sedation

Alpha-adrenergic agonist> increase the systemic vascular resistance

Occurance of cyanotic spell indicate the need for surgical intervention : Complete surgical

repair> VSD closure and removal or patching of the pulmonary stenosis

Palliative shunt surgery> between the subclavian artery and pulmonary artery

Truncus arteriosus

There is a common arterial trunk. The trunkal valve is often very abnormal. Presents with cyanosis and heart failure in the first few weeks, as pulmonary vascular resistance falls.

Totally anomalous pulmonary venous drainage (infradiaphragmatic)

All four pulmonary veins drain to the right side. Below the diaphragm they are always obstructed. Infant presents in first days with cyanosis, circulatory and respiratory failure and collapse.

Infective endocarditis prophylaxis

whom to give? In Yasmeen’s presentation of IE in

medicine ^_~

References

Karen J, Robert M, Hal B , Richard E. Nelson Essential of Pediatrics. 6th edition. P537- 543

Joshi S, Wali Y. Practical Pediatrics.1st edition. P279-283

Lissauer T, Clayden G. Illustrated textbook of Pediatrics. 3rd edition. P290-300

Porth C. Essential of Pathophysiology. 2nd edition. P 411-415

Thank You