BYDR. Humaira Hanif (PT)

*Congenital heart diseasesCongenital heartdiseases

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According to the American Heart Association ,about nine of every1000 babies born in the United States have a congenital (presentat birth) heart defect .This is a problem that occurs as the baby’sheart is developing during pregnancy ,before the baby is born.Congenital heart defect are the most common birth defects.CHD: group of anatomic abnormalities of the heart that aregenerally present at birth.Ranges from asymptomatic to fatal The most common group of structural malformations in children.Occur in 8 per 1000 births

DEFINATION

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

*PresentationPresentation

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Vast majority of children with murmurs have a normal heart.‘Innocentmurmur’, from turbulent flow in great vessels outflow tracts. 2 types of innocent murmur:

Ejection murmurturbulent blood flow in the ventricle, outflow tract or great vessels

not associated with structural abnormalities

Venous humturbulent 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/ withcompression of jugular veins on same side.

*Heart murmursHeart murmurs

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Soft blowing systolic ( usually from R side pulmonary outflow)OR short buzzing ( usually from L side aortic blood flow) Localized to L sternal edge No diastolic component Normal heart sound with no added sounds No parasternal thrill(a palpable murmur on your hand) No radiation Asymptomatic pt

*Hallmarks of innocent ejection murmurHallmarks of innocentejection murmur

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7 S’s :Soft (low amplitude)ShortSystolic Single (no click/gallop)Sensitive (to posture) left Sternal edgeaSymptomatic

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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 lifeare duct-dependent The key to early survival is Maintenance of ductal patency withIV prostaglandin ‘PGE’

*CyanosisCyanosis

ACYANOTIC

CYANOTIC

CLASSIFICATION

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Due to failure of septal growth or excessive reabsorption of tissue. 2 main types:Secundum ASD : defect in the center of the atrial septuminvolving 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 theatrial septum and the AV valves (primum ASD) Abnormal AV valve which has 3 leaflets and tend to leak (Regurgitant valve)

*Atrial Septal Defect(ASD)Atrial Septal Defect(ASD)

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Symptoms: Rarely symptomatic Recurrent chest infections/wheeze

Physical signs:

Fixed splitting of S2(second heart sound)..? Ejection systolic murmur over the pulmonary area ..?Mid-diastolic murmur at the left lower sternal border .. ?

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

ECG

* INVESTIGATIONSINVESTIGATIONS

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Children with significant ASD (shunt is still present at around 3yrof age) will require treatment : Secundum ASD by cardiac cathetrization. Partial AVSD by surgical correction .

Treatment undertaken at 3-5 yrs of age to prevent RHF ANDarrhythmias in later life.

*ManagementManagement

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The most common CHD (30%) Occur when there is a defect anywhere in thevetricular septum usually perimembranous(adjacent to tricuspid valve)or muscularseptum.The size of the VSD affects the clinicalpresentation

Small VSD: smaller than aortic valve, up to3mm

Large VSD: same/bigger than aortic valve.

*Ventricular septal defectVentricular septaldefect

Clinical features: Symptoms:

AsymptomaticPhysical signs: May have thrill at lower sternal edge Loud pansystolic murmur at lower left sternal edge

*Small VSDSmall VSD

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Chest X-ray:-NormalECG: -NormalEchocardiography:

-Show the defect Doppler echocardiography to asses thehemodynamic effect

* Investigations:Investigations:

Most of these lesions will close spontaneously by3 years of age ( conformed by disappearance ofmurmur, normal ECG, normal echocardiogram)

*Management:Management:

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Clinical features: Symptoms: ( 2-4 wks)

Breathlessness, poor feeding, diaphoresis(state of perspiringprofusely). Recurrent chest infection .

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

*Large VSDLarge VSD

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Chest X-ray: Cardiomegaly Enlarged pulmonary arteries Increased pulmonary vascularmarking Pulmonary congestion

* InvestigationsInvestigations

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Anti-heart failure therapy: diuretics, digoxin, ACE inhibitors . If symptoms are controlled and pulmonary HTN dose notdevelop> follow up . Continued poor growth and pulmonary HTN despite therapy >surgical closure.

*Management:Management:

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The ductus arteriosus allows blood to flowfrom the pulmonary artery to the aortaduring fetal life. This changes to theopposite after birth. In term infants, it normally closes shortlyafter birth. Failure of the normal closure of itby a month post term is due to a defect inthe constrictor mechanism of the duct. In preterm infants, the PDA is not from CHDbut due to prematurity

*PDA(Patent Ductus Arteriosus)PDA(Patent DuctusArteriosus)

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Symptoms: Small PDA: asymptomatic Large PDA: HF

Physical signs: High volume collapsing pulse Widened pulse pressure Loud S2 Continuous murmur (beneath left clavicle)

*Clinical featuresClinical features

Closure with a coil or occlusion deviceintroduced via a cardiac catheter at about 1 yearof age.

*ManagementManagement

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A combination of several closelyassociated heart problems that result in alarge defect in the center of the heart: Defects include holes such as ASD, VSDand abnormalities of the AV valves. Blood can move freely among the fourheart chambers, mixing oxygen-rich (red)blood with oxygen-poor (blue) blood.The condition is common in children withDown syndrome (about 20%)

*cAVSD(Complete AV cAVSD(Complete AV septal defect)cAVSD(Complete AVseptal defect)

Clinical features: Pulmonary HTN As the pressure in the lungs rises, blood within the heart willeventually "shunt" through the septal openings from right heart to theleft. This allows oxygen-poor (blue) blood to reach the body, andcyanosis will be noted.Investigations:Chest X-ray: Cardiomegaly with enlargement of all chamberECG:

Superior axis Combined ventricular hypertrophy

Echocardiography Treatment:

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

*Summary.. L-to-R shuntSummary.. L-to-R shunt

*Outflow ObstructionOutflow Obstruction

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Site: Valvar (most), supravalvar, orsubvalvar .

The valve may have only two orone leaflets.The leaflets that are partially fusedtogether. Three leaflets, but thick and partlyor completely stuck together.

narrowing of the valve

*PS(Pulmonary Stenosis)PS(Pulmonary Stenosis)PS(Pulmonary Stenosis)

Pulmonary valve is mildly to moderately narrowed

The right ventricle pump harder and at a higher pressure topropel blood through the valve

Right ventricular hypertrophy

*PathophysiologyPathophysiology

Severe stenosis in a neonate

Right ventricle cannot eject sufficient volume of blood flow into thepulmonary artery

Right ventricular pressure becomes extremely high

Delay the closure of the foramen ovale

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

Cyanosis

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Clinical features:Symptoms:

Mild PS: asymptomaticModerate- 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 tothe back Systolic thrill over the pulmonary area S2 widely splitting Left parasternal heave (RV hypertrophy) Ejection click that audible in inspiration

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

Chest X-ray: normal or post-stenotic dilatation of the mainpulmonary artery ECG: RVH

Management:Indicated for moderate to severe casesTreatment measures designed to maintain the patency of the ductusarteriosus > used as palliative measure to maintain or increasepulmonary blood flow in infants with sever pulmonary stenosisTrans-catheter balloon dilatation is the treatment of choice (whenpressure gradient across pulmonary valve > 64mmHg)

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Valvular, subvalvular orsupravulvalar Failure of :

development of the threeleaflets Resorption of tissue aroundthe valve

*AS(Aortic stenosis)AS(Aortic stenosis)AS(Aortic stenosis)

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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 tothe neck Carotid thrill (always) Apical ejection click

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Investigations:Chest x-ray:

Normal or prominent left ventricle with poststenotic dilation of theascending aorta

ECG: LVHManagements:

The degree of aortic stenosis frequently progress with growth andage > regular clinical and echocardiographic assessments.Balloon valvotomy > children who have high resting pressuregradient (>64mmHg) across aortic valve.

Balloon dilatation in older children is safe, but in neonates muchmore difficult & dangerous.

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Narrowing of the aorta at the junctionof the arch with descending aortapreductal or post ductal(98%). 2X more common in males 25% of patients with Turner’sSyndrome have coarctation of aorta Associated Defects:

Bicuspid aortic valve (mostcommon associated defect seen in50%) VSD ASD

*COA(Coarctation of aorta)COA(Coarctation of aorta)COA(Coarctation of aorta)

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Physical signs:Weak pulse in the lower extremitiesBounding pulse of the arms andcarotid vessels. Fall in systolic BP in the lowerextremities compared to the upperextremities. Systemic HTN in the upper extremities Loud aortic S2 Systolic ejection murmur Systolic ejection click

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Investigations:CXR : rib notching with largecollateralsECG: LVH

Managements:Infants: intravenous infusion ofprostaglandin E1 , inotropicagents, diuretics.Balloon angioplasty andstentingSurgical repair

*SummarySummary

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Cyanotic (right-to-left shunt) Occurs when the systemic venous return crossesfrom the right side to the left side of the heart andreturns to the body without going through thelungs.

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

*Cyanotic CHDCyanotic CHD

*Teratology of fallotTeratology of fallot

• It is the most common form of cyanotic heart disease .• It occurs in approximately 1 in 3000 live births and accountsfor 10% of CHD.• It is also the most common CHD requiring surgical correctionin the first year of life without which only 10% of patient survivebeyond the age of 20 yrs.

* IntroductionIntroduction

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During the fifth week, pairs ofopposing ridges appear in thetruncus (right superior truncusswelling & left inferior truncusswelling). Hence, while growing towardthe aortic sac, the swellingstwist around each other,foreshadowing the spiralcourse of the future septum. After complete fusion, theridges form theaorticopulmonary septum,dividing the truncus into anaortic and a pulmonarychannel.

• TOF, is due to an unequaldivision of theconus(anteriorsuperiorportion of the RA) resultingfrom anteriordisplacement of theconotruncal septum.

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The original description ofTOF included the followingfour abnormalities:

A large VSD RVOT obstruction RVH Overriding of the aorta.

*PathologyPathology

• In actuality, only two abnormalities are required, a VSD large enoughto equalize pressures in both ventricles and an RVOT (Right ventricularoutflow tract)obstruction. • The RVH is secondary to the RVOT obstruction, and the overriding ofthe aorta varies.• The VSD in TOF is a large perimembranous defect with extension intothe subpulmonary region.• The RVOT obstruction is most frequently in the form of infundibularstenosis (45%).• The obstruction is rarely at the pulmonary valve level (10%).• A combination of the two may also occur (30%).• The pulmonary valve is atretic(closed or absent) in the most severeform of the anomaly (15%)

*PathologyPathology

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Clinical features:Symptoms:

Vary widely (cyanosis) and depend mainly on the severity ofpulmonary stenosis. Infancy:

cyanosis SOB on exertion (feeding )

hyper-cyanotic spells : periods of increasing cyanosis associatedwith inconsolable crying , fast breathing and irritability (may leadto unconsciousness , anoxic seizures, MI, cerebrovascularaccidents, death)

Older children: effort intolerance and squatting

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Physical signs: Central cyanosis Clubbing of the fingers and toes occurs after 3 months of age and is

proportional to the level of cyanosis. Loud harsh ejection systolic murmur initially and then with

increasing severity of pulmonary stenosis the murmur become shorterand softer.

Single second heart sound (A2)Varying degrees of cyanosis, tachypnea, and clubbing (in older infantsand children) are present.Increased right ventricular activity is observed. A systolic thrill may be palpable at the left midsternal border, with aharsh midsystolic murmur in that location. The shorter the murmur, the more severe the infundibular pulmonarystenosis.The first heart sound (S1) is usually normal • Second heart sound ischaracteristically single, because the pulmonary component is too soft tobe heard. A continuous murmur is heard if a PDA or large collateral vessels arepresent. An early systolic ejection sound at the left sternal border and apex isuncommon; its presence suggests primarily valvular pulmonary stenosis.

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Investigations:Chest X-ray:

Boot-shaped heart ( caused bysmall main pulmonary artery andupturned apex secondary to RVH)

Pulmonary oligemia> decreasedpulmonary vascular markingThe total heart size is usually normalon chest X-ray, but right ventricularenlargement is present in the lateralview.The aorta arches to the right in manycases.

•ECG:

RVH There is right ventricular hypertrophy, with a tall R wave in the rightprecordial leads and a deep S wave in the left leads.• A QRS duration of >180 ms is a predictor of sustained VT and suddencardiac death.• Some of these patients have right atrial hypertrophy

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• Also called cyanotic spells, hypercyanotic spells, “tet” spells •Hypoxic spells are characterized by:

Paroxysm of hyperpnea (i.e., rapid and deep respiration), Irritabilityand prolonged crying,Increasing cyanosis, and Decreasing intensity of the heart murmur.

• Hypoxic spells occur in infants, with a peak incidence between 2and 4 months of age.• These spells usually occur in the morning after crying, feeding, ordefecation.• A severe spell may lead to limpness, convulsion, cerebrovascularaccident, or even death.

*Hypoxic SpellHypoxic Spell

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Management:Hypoxic spells:

Oxygen administration Placing the child in the knee- chest position Morphine > to relax the pulmonary infundibulum and for sedation Alpha-adrenergic agonist> increase the systemic vascularresistance

Occurrence of cyanotic spell indicate the need for surgicalintervention :

Complete surgical repair> VSD closure and removal or patching ofthe pulmonary stenosis Palliative shunt surgery> between the subclavian artery andpulmonary artery

DEFINATION:The transposition of the greatarteries is ventriculo arterialdiscordance, in which the aortaarises from the morphologicright ventricle and thepulmonary artery arises fromthe morphologic left ventricle.

*Transposition of great artieriesTransposition ofgreat artieries

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Etiology for transposition of the great arteries is unknown andis presumed to be multifactorial. This congenital heart defect is more common in infants ofdiabetic mothers.

* IncidenceIncidence

*EtiologyEtiology

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Transposition of the great arteries (TGA) is the most commoncyanotic congenital heart lesion that presents in neonates. This lesion presents in 5-7% of all patients with congenital heartdisease. The overall annual incidence is 20-30 per 100,000 live births.

(The pulmonary and systemic circulations function in parallel, ratherthan in series)

Causes

Transposition of great arteries

Oxygenated pulmonary venous blood returns to the left atrium andleft ventricle

Recirculated to the pulmonary vascular bed via the abnormalpulmonary arterial connection to the left ventricle.

*PathophysiologyPathophysiology

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Deoxygenated systemic venous blood returns to the right atrium andright ventricle pumped to the systemic circulation, effectively bypassing the lungs deficient oxygen supply to the tissues and an excessive right and leftventricular workload It is incompatible with prolonged survival unless mixing ofoxygenated and deoxygenated blood occurs at some anatomic levellike

ASD VSD PDA

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Prominent and progressive cyanosis within the first 24 hours oflife is the usual finding in infants.Tachypnea Tachycardia Diaphoresis Failure to gain weight

*Heart soundHeart sound

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A single or narrowly split, diminished second heart sound Systolic ejection murmur may be present. 

*Clinical manifestationsClinical manifestations

Chest radiographydemonstrate the classic "eggon a string" appearance inapproximately one third ofpatients.

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Medical management: Initial treatment consists of maintaining ductalpatency with continuous intravenous (IV)prostaglandin E1  infusion to promote pulmonaryblood flow. Antibiotic Prophylactic Regimens forEndocarditis. Fluid replacement Bicarbonate administration- Acidosis Mechanical ventilation

Surgical management: Rastelli-type procedure-ligate the mainpulmonary artery and place an aortopulmonaryshunt during the newborn period to restrictpulmonary blood flow. Arterial switch procedure

*ManagementManagement

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Definition :This anomaly consists of a single arterial trunk exiting fromthe heart through a common valve, giving origin to aorta (systemiccirculation), pulmonary artery (pulmonary circulation) and coronaryarteries (coronary circulation).

Failure of normal septation and division of the embryonic bulbartrunk into the pulmonary artery & aorta, which results indevelopment of a single vessel that overrides both ventricles.

Blood from both the ventricles mixes in the common great arterywhich leads to desaturation and hypoxemia.

Blood ejected from the heart flows preferentially to the lowerpressure pulmonary arteries, so the pulmonary blood flow isincreased & systemic blood flow is reduced

*Truncus arteriosusTruncus arteriosus

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Blood ejected from the left and right ventricles enters the commontrunk, so that pulmonary & systemic circulations are mixed.Blood flow is distributed to the pulmonary and systemiccirculations according to the relative resistances of each system.The amount of pulmonary blood flow depends on the size of thepulmonary arteries and the pulmonary vascular resistance.Generally resistance to pulmonary blood flow is less than systemicvascular resistance, which results in preferential blood flow to thelungs. Pulmonary vascular disease develops at an early age inpatients with truncus arteriosus.

*PathophysiologyPathophysiology

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Clinical manifestations CCF in early pregnancy FTT,feeding difficulties,excessive sweating,tachypneaRepeated respiratoryinfection Hyperdynamic precordium cardiomegaly, hepatomegalyMinimal cyanosis(notdetected in rest, detectedonly in crying)

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Diagnosis ECG: Tall, peaked P wave in leadII,III and aVF shows RAE, right axisdeviation and RVH.Radiography: cardiomegaly, a highorigin of a dilated left pulmonaryartery may give rise to comma signin CXR.Echo : most helpful diagnostic tool. Cardiac catheterization : used toclarify doubt about cardiacanatomy

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Management Medical

Control of CCF with diuretics and digoxin Correction of acidosisTreatment of respiratory infectionsNo oxygen to minimize pulmonary blood flow If interruption in aortic arch, prostaglandin infusion to keep ductusarteriosus patent. I E prophylaxis

Surgical managementDefinite treatment : surgical repair Early surgery is necessary Definiterepair using conduit from RV to PA and closure of VSD. Optimum age : Before 3 months. As the child grows this conduittends to degenerate and calcify, so it needs replacement in futurePalliative surgery: Pulmonary artery banding. It is indicated in infantswith large pulmonary blood flow and CCF.

is a form of congenital heart disease whereby there is a complete absence of the  tricuspid valve. Therefore, there is an absence  of right atrioventricular connection. This leads to a hypoplastic (undersized) or absent  right ventricle.This defect is contracted during prenatal  development, when the heart does not finish  developing. It causes the heart to be unable to properly oxygenate the rest of the blood in the  body. Because of this, the body does not have  enough oxygen to live, and steps must be taken  to keep the child alive. Because of the lack of an  A-V connection, an atrial septal defect (ASD) must be present to maintain blood flow. 

*Tricuspid atresiaTricuspid atresia

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Also, since there is a lack of a right ventricle there must be a way to pump blood into the  pulmonary arteries, and this is accomplished  by a ventricular septal defect (VSD).Blood is mixed in the left atrium. Because the only way the pulmonary circulation receives  blood is through the VSD, a  patent ductus arteriosus is usually also formed to increase pulmonary flow.Clinical manifestations

progressive cyanosis poor feeding tachypnea over the first 2 weeks of life holosystolic murmur due to the VSDleft axis deviation on electrocardiography and left ventricular hypertrophy (since it must pump blood to both the pulmonary and systemic  systems) normal heart size

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PGE1 to maintain patent ductus arteriosus modified Blalock-Taussig shunt -to maintain pulmonary blood flow by placing a Gore-Tex conduit between the subclavian artery and the pulmonary artery. cavopulmonary anastomosis :to provide stable pulmonary  flow Fontan procedure to redirect inferior vena cava and hepatic vein flow into the pulmonary  circulation

*TreatmentTreatment

DEFINITIONTAPVC defines the anomaly in which the pulmonary veins have noconnection with the left atrium. Rather, the pulmonary veinsconnect directly to one of the systemic veins (TAPVC) or drain into right atrium. PAPVC results from failure to establish a normalconnection between one or more of the pulmonary veins.

* TOTAL ANOMALOUS PULMONARY VENOUS CONNECTIONTOTAL ANOMALOUS PULMONARYVENOUS CONNECTION

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CLINICAL FEATURES Asymptomatic at birth. Tachypnea and feeding difficulties - within first few weeks of life. Have recurrent resp.tract infections and failure to thrive.Mild cyanosis Gradually they develop right heart failure and pulmonary arteria A prominent right ventricular heave .  A characteristic feature - multiple cardiac sounds.  Hepatomegaly & peripheral edema Clubbing occasionally is seen in the patient who  survives infancy.

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RADIOLOGIC FEATURESTAPVC without Pulmonary Venous  Obstruction

The RA and RV are enlarged, and the pulmonaryartery segment is prominent.  The left-sided chambers are not enlarged

TAPVC with Pulmonary Venous  ObstructionGround-glass appearance Diffuse reticular pattern Cardiac size is normal Kerley B lines(thin linear pulmonary opacitiescaused by fluid or cellular infiltration into theinterstitium of the lungs) may be present

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MANAGEMENT Corrective surgery - definitive treatment. Infants presenting with obstructed TAPVC represent surgicalemergency. They need require intensive resuscitation before goingfor definitive surgery. Nonobstructed TAPVC patient are relatively stable and can betaken for elective corrective surgery within few days of diagnosisirrespective of patients age and weight.

EMERGENCY MEDICAL MANAGEMENT

Mechanical ventilation. Correction of Metabolic acidosisInotropic support Prostaglandin therapy (PGE1)

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ADDITIONAL INTERVENTIONS INCLUDE Extracorporeal membrane oxygenation (ECMO) may be used ininfants with severe pulmonary hypertension or refractory cardiacfailure. Balloon or blade atrial septostomy may be used as a palliativeprocedure.It is not appropriate because it delays the definitive procedure andis of no value in obstructed venous channel.

SURGERY :The goal of the surgery is

To create a communication between LA and the pulmonary venous. Closure of the anomalous pulmonary venous connections tosystemic circulation Closure of ASD

*THANK YOUTHANK YOU