CONGENITAL HEART DISEASES

DR. DAVIS KURIAN

INTRODUCTION• 7-10 per 1000 births.• Principal cause of heart disease.• Early detection by fetal USG.• Most commonly seen in trisomy 21 ; others

being trisomy 13, 18 and in turner’s syndrome.• VSD – majority of all acyanotic heart defects• TOF – majority of all cyanotic heart defects.

SIGNS AND SYMPTOMS

• INFANTS :– Tachypnea.– Failure to gain weight.– HR > 200 bpm.– Heart murmur.– CHF.– Cyanosis.

SIGNS AND SYMPTOMS• CHILDREN:

– Dyspnea.– Slow physical development.– Decreased exercise tolerance.– Heart murmur.– CHF.– Cyanosis.– Clubbing of digits.– Hypertension.

PROBLEMS ASSOCIATED• Infective

endocarditis• Dysrhythmias.• Complete heart

block• Hypertension

• Erythrocytosis• Thromboembolism• Coagulopathy.• Brain abscess• Increased plasma

uric acid concentration• Sudden death

CLASSIFICATION

• Acyanotic

• Cyanotic

• Causing mechanical obstruction to trachea

ACYANOTIC HEART DISEASES (L-R)• Atrial septal defect• Ventricular septal defect• Patent ductus arteriosus• Aorticopulmonary fenestration• Aortic stenosis• Pulmonic stenosis• Coarctation of aorta

CYANOTIC HEART DISEASES• Tetrology of Fallot• Eisenmenger’s syndrome• Ebstein’s anomaly• Tricuspid atresia• Transposition of great arteries• Truncus arteriosus• PAPVC• TAPVC• Hypoplastic left heart syndrome

CAUSING MECHANICAL OBSTRUCTION TO TRACHEA• Double aortic arch• Abberant left pulmonary artery• Absent pulmonic valve

CONGENITAL HEART DISEASES – LEFT-TO-RIGHT SHUNT

• Secundum ASD• Primum ASD (endocardial cushion defect)• VSD• Aorticopulmonary fenestration

ACYANOTIC HEART DISEASES• L-R intracardiac shunts – increased

pulmonary blood flow – PAH – LVH – CCF.

• Earlier the correction – less likelihood of pulmonary hypertension

ASD• 1/3 of the congenital heart

disease detected in adults – increased incidence in females.

• 3 types – ostium primum ASD, secundum ASD & coronary sinus ASD.

• Secundum ASD – 75% of all the ASD cases.

• Other associated cardiac anomalies are :– MVP – secundum ASD– MR – primum ASD

ASD• Direction and magnitude of shunt depends on the

size of defect & compliance of ventricle.• Small shunt (<0.5 cm) – no hemodynamic sequelae.• Approaches 2cm – L-R shunt – increased pulmonary

blood flow.• ESM in 2nd left ICS.• Wide split S2 (delayed closure of pulmonary valve

d/t increased flow across the valve)• Murmur detected usually by 6-8 wks.

ASD• ECG –Right axis deviation & incomplete

RBBB.• AF, SVT can also accompany• CXR – prominent pulmonary vasculature,

mild to moderate cardiomegaly

SIGNS AND SYMPTOMS• May remain undetected for years.• Dyspnea on exertion• SVT• RHF• Recurrent pulmonary infections• Paradoxical embolism• Congestion of abdominal viscera due to increased

right sided pressure and circulatory volumes.• IE prophylaxis not required unless concomitant

valvular abnormality is present.

VSD• Most common congenital

cardiac anomaly in infants and children.

• Accounts for most common congenital cardiac anomaly in adults excluding a bicuspid aortic valve.

• Many of them spontaneously resolve by 2yrs of age.

• 70% - lesion in membranous part of IV septum, 20% - in the muscular part, 5% - just below aortic valve (Aortic Regurgitation), 5% - near the junction of mitral and tricuspid valve (AV canal defect).

VSD• Echocardiography with doppler confirms the

location and the flow.• Cardiac catheterisation and angiography

can determine the magnitude of the intracardiac shunt and the pulmonary vascular resistance

SIGNS AND SYMPTOMS• Depends on the size of the shunt and magnitude

of flow. Small defects – asymptomatic.• Initially L-R shunt due to SVR>PVR – later the

ratio may reverse – R-L shunt and cyanosis.• Holosystolic murmur – loudest at the lower left

sternal border.• Large VSD – ECG shows features of LA and LV

enlargement.• When PAH develops – QRS axis shifts to right and

RA and RV enlargement on ECG.

SIGNS AND SYMPTOMS• Small defects and normal PVR –

asymptomatic, PAH unlikely to develop - but high risk of IE.• Large VSD – can lead to LVF or PAH and

associated with RVF.• PVR/SVR >0.7 – surgical correction not

possible.

PDA• Occurs when ductus

arteriosus (arises distal to left subclavian – connects descending aorta to left pulmonary artery) fails to close spontaneously after birth (24-48 hrs after birth) – usually seen with preterm infants.• Ductus arteriosus in fetus –

helps pulmonary artertial blood to bypass deflated lungs to reach descending aorta and then to placenta for oxygenation.

PDA• Failure to close – continuous flow of blood

from aorta to pulmonary artery.• Flow depends on SVR, PVR, diameter and

the length of ductus arteriosus.• PDA – usually visualised on

echocardiography and doppler helps to assess the flow.• Cardiac catheterisation – used to assess the

PVR.

SIGNS AND SYMPTOMS• Usually asymptomatic with modest L-R

shunt.• Examination may show a cardiac defect – at

which time the characteristic continuous systolic and diastolic murmur is heard in the left infraclavicular or left upper sternal border.• Large L-R shunt – evidence of LVH on ECG

and CXR.• If PAH – RVH is apparent.

SIGNS AND SYMPTOMS• Untreated PDA – LVH, CCF and PAH –

eisenmenger’s syndrome with shunt reversal, poor physical growth, infective endocarditis, aneurysmal dilatation of the ductus and ductal calcification.• Without surgical ligation – patients may

remain asymptomatic untill adolesence - when PAH and CCF develops – CI to surgical closure.

TREATMENT• 70% of infants delivered before 28 wks require

medical or surgical closure.• Complications of surgical closure – IC bleed,

infections, recurrent laryngeal nerve paralysis.• Medical closure by COX-1 or COX-2 inhibitors –

esp indomethacin (non selective COX inhibitor).• ADR- include decreased mesenteric, renal and

cerebral blood flow.• Ibuprofen – less adverse effects on blood flow.

AORTICO-PULMONARY FENESTRATION• Characterised by – communication between left

side of ascending aorta and right wall of main pulmonary artery, just anterior to the origin of right pulmonary artery.

• Due to failure of fusion of aorticopulmonary septum to fuse and completely separate the aorta from the pulmonary artery.

• Clinical and hemodynamic manifestations – similar to large PDA.

• Treatment is surgical – requires cardiopulmonary bypass.

AORTIC STENOSIS• Usually occur with other existing CVS

anomalies.• The biscuspid valve is not usually stenotic

at birth – progressive thickening and calcification – apparent by 15yrs of age.• Transthoracic echo and doppler –

assessment of severity of stenosis and LV function.• Cardiac catheterisation – to r/o concomitant

coronary artery disease.

SIGNS AND SYMPTOMS• Systolic murmur – 2nd right ICS (aortic area).• Asymptomatic until adulthood.• Infants with severe AS – CCF.• Supravalvular AS –

– prominent facial bones – round forehead – pursed upper lip – associated peripheral pulmonary artery stenosis in

conjunction with Williams-Beuren syndrome (distinctive personality and behavioral traits, elfin facies, transient neonatal hypercalcemia).

– Strabismus, inguinal hernia, dental anomalies, moderate mental retardation.

SIGNS AND SYMPTOMS• Myocardial ischemia and sudden death in

conjunction with sedation or anaesthesia – in congenital SVAS.

• ECG – LVH, ST depression with exercise (if pr gradient >50mm Hg).

• CXR – LVH ± post stenotic dilataion of aorta.• Angina and syncope.• High velocity of blood through stenotic area – IE and

post stenotic dilatataion of aorta.• Valve replacement indicated in symptomatic AS.

PULMONIC STENOSIS• Produces obstruction to RV outflow in 90% cases

– rest being supra/subvalvular.• Supravalvular PS – often coexists with other

congenital cardiac anomalies (ASD, VSD, PDA, TOF) and William’s syndrome (infantile hypercalcemia and mental retardation).• Subvalvular PS – usually in conjunction with VSD.• Valvular PS – typically isolated lesion, but can

occur with VSD

PULMONIC STENOSIS• Severe PS – transvalvular pressure >80mm

Hg or RV systolic pressure >100 mm Hg.• Echo and doppler to asses the flow and

severity.• Treatment by percutaneous balloon

valvuloplasty.

SIGNS AND SYMPTOMS• Loud ESM best heard in the 2nd Left ICS –

intensity and duration depends on the severity.• Dyspnea on exertion progressing to RVF

with peripheral edema and ascites.• If patent foramen ovale – R-L shunt –

cyanosis and clubbing.

COARCTATION OF AORTA• Typically consists of a diaphragm like ridge extending

into the lumen and is described by its relationship to the ductus arteriosus (pre/juxta/post ductal).

• Postductal – extends just distal to the left subclavian artery at the site of aortic ductal attachment (ligamentum arteriosum) – manifests in young adults).

• Preductal – less common – coarctation is just proximal to the left subclavian artery.

• More common in males – occurs specifically in turner’s syndrome, aneurysm of circle of willis.

SIGNS AND SYMPTOMS• Systemic hypertension in arms in

association with diminished or absent femoral arterial pulses.• SBP more in arms, DBP almost similar –

wide pulse pressure in arms (no difference in preductal coarctation)• Harsh ESM – along the left sternal border

and back.

SIGNS AND SYMPTOMS• ECG – LVH• CXR – notching of ribs – due to collaterals,

LVH, reversed E or 3 sign.• Echo and doppler to assess the

transcoarctation pressure gradient.• Symptoms include – dizziness, headache,

epistaxis and palpitation, claudication.• Women with coarctation – increased risk of

dissection during pregnancy.

SIGNS AND SYMPTOMS• Complications include – systemic HTN, LVF,

aortic dissection, premature IHD, IE, CVA (d/t rupture of cerebral aneurysms).• Require IE prophylaxis.• Treatment by – surgical resection (pr

gradient >30 mm Hg)

CONGENITAL HEART DISEASES – R-L SHUNT• TOF• EISENMENGER’S SYNDROME• EBSTEIN’S ANOMALY• TRICUSPID ATRESIA• FORAMEN OVALE

CYANOTIC HEART DISEASES• R-L intracardiac shunt• Arterial hypoxemia – secondary

erythrocytosis – increased risk of thromboembolism (esp when hct >70%), coagulation disorders (def of vit K dependent coagulation factors and defective platelet aggregation.• Increased risk of cerebral abscess – mimics

stroke

CYANOTIC HEART DISEASES• Usually described with 5 Ts:

– TOF– TGA– Tricuspid atresia– TAPVC– Truncus arteriosus

TOF• Most common congenital

cyanotic heart disease.• Characterised by single

large VSD, overriding of aorta, obstruction to RV outflow (subvavular, valvular, supravalvular, pulmonary arterial branches) and RVH.• Other coexisting

anomalies – right aortic arch, ASD (pentology of fallot) and coronary arterial anomalies.

TOF• R-L shunting occurs due to increased

resistance to RV outflow – severity of which determines the magnitude of shunt – resistance relatively fixed – changes in SVR can affect the shunt.• Decrease in SVR – increases the shunt –

increased arterial hypoxemia.• Diagnosis by echocardiography and

doppler.

SIGNS AND SYMPTOMS• Typically the neonate is pink – develops

cyanosis between 2nd and 6th month of age.• ESM – along the left sternal border – murmur

becomes shorter and less intense with increasing severity – disappears or becomes soft in a hypercyanotic spell.• Holosystolic murmur of VSD – in some cases.• CCF rarely develops – VSD equlibrates the

intraventricular pressure and the cardiac workload.

SIGNS AND SYMPTOMS• CXR – decreased lung vascularity, boot shaped

heart with upturned right ventricular apex and a concave main pulmonary arterial segment.• ECG – right axis deviation and RVH.• Central cyanosis usually present.• Squatting – commonly seen in these children –

increases SVR – increases the L-R shunt – increasing pulmonary blood flow – improving arterial oxygenation.

HYPERCYANOTIC ATTACKS• Sudden spells of arterial hypoxemia with

worsening of cyanosis, increased rate and depth of respiration, and in some cases – LOC, seizures, CVA and even death.• Usually associated with crying, defecation,

feeding or exercise.• Peak incidence between 2-3 months.• Mechanism – not clearly known – but suggested

to be spasm of infundibular cardiac muscle or decreasd SVR.

TREATMENT• Depends on the cause.• Knee chest position.• Spasm of the infundibular cardiac muscle – β2

adrenergic antagonists like esmolo, propranolol.• If due to decreased SVR – IV fluids and/or

phenylephrine.• Recurrent attacks – long course of oral propranolol

and surgical correction.• donot occur with adolescents and adults – decreased

exercise tolerance and cyanosis may b the symptoms.

OTHER COMPLICATIONS• CVA – common in children with severe TOF –

due to thrombosis (aggravated by dehydration and polycythemia) or hypoxemia.• CEREBRAL ABSCESS – abrupt onset of

headache, fever, lethargy, persistent vomiting and seizures.• IE – high mortality rate.

EISSENMENGER’S SYNDROME• Increased PVR – reversal of L-R shunt to a

level that equals or exceeds the SVR.• Shunt reversal occurs in approx 50% of

untreated VSD and approx 10% in untreated ASD.• Progressive narrowing of pulmonary

vasculature due to increased blood flow and pressure.• Murmur due to the underlying cardiac

defect disappears when this develops.

SIGNS AND SYMPTOMS• Cyanosis and decreased exercise tolerance.• Palpitations due to Afib or Afl.• Hyperviscosity – visual disturbances, headache,

dizziness and parasthesias.• Hemoptysis – due to pulmonary infarction or

dilataion of pulmonary arteries, arterioles or collateral vessels.• Sudden death can occur.• ECG - RVH

EBSTEIN’S ANOMALY• Posterior and septal leafelets of tricuspid

valve are malformed or displaced downwards into the RV.• The valve is usually regurgitant but can be

stenotic also.• There is usually an interatrial connection

through which there is R-L shunting of blood and associated pulmonary atresia or VSD.• Very rare

SIGNS AND SYMPTOMS• Can vary from being asymptomatic to CCF.• Neonates may manifest with cyanosis and

CCF that worsens after ductus arteriosus closes – donot survive without surgical intervention.• Those with interatrial connections are at

risk of paradoxical embolism, brain abscess, CCF and sudden death.• In older children this may be an incidental

finding.

SIGNS AND SYMPTOMS• Systolic murmur due to TR may be present.• Hepatomegaly due to increased RS

pressures.• ECG- tall and broad P waves and first

degree AV block.• PSVT may b seen and they are also likely to

have accessory conduction pathways.• PIH in these patients can cause CCF.

TRICUSPID ATRESIA• Defined as congenital absence or agenesis of

morphologic tricuspid valve – arterial hypoxemia, small RV, large LV, markedly reduced pulmonary flow.– Type 1 – normally related great arteries.– Type 2 – dextro transposition of great arteries.– Type 3 – transposition other than dextro

transposition– Type 4 – truncus arteriosus.

TRICUSPID ATRESIA• They usually have an underlying ASD or

VSD and outflow obstruction.• Hence there can be one or more

subgroups :• Cases with pulmonary atresia• Cases with pulmonary stenosis or

hypoplasia• Cases with normal pulmonary arteries and

no stenosis.

SIGNS AND SYMPTOMS• 50% develop symptoms on the first day.• Children with reduced pulmonary flow –

central cyanosis, clubbing, tachypnea, normal pulses, prominent a wave in JVP.• Holosystolic murmur of VSD or a continuous

murmur of PDA.• Difficulty in feeding, failure to thrive,

diaphoresis and recurrent respiratory infections may be seen.

SIGNS AND SYMPTOMS• ECG – RA enlargement, left axis deviation

and LVH.• Echo and doppler to assess the severity

TGA• Results from failure of

truncus arteriosus to spiral so that aorta arises from the anterior portion of RV and pulmonary arteries from LV.

• Survival is possible only when there is communication between the circulations in the form of ASD, VSD or PDA.

SIGNS AND SYMPTOMS• TGA with intact IV septum – cyanosis in 1st

week, non specific systolic murmur may be heard.• TGA with VSD – signs of CCF (tachypnea,

tachycardia, sweating and poor feeding) within 4-8 wks with relatively minimal cyanosis, with a high grade holosystolic rumbling murmur.• TGA with VSD and pulmonary stenosis –

depends on the severity of stenosis.

SIGNS AND SYMPTOMS• ECG – right axis deviation and RVH.• CXR – egg shaped cardiac silhouette with a

narrow stalk.• Echo – useful in assessment of severity.

TRUNCUS ARTERIOSUS• Presence of a single arterial

trunk which serves as origin for both aorta and pulmonary artery.• Associated with very high

mortality.• There is L-R shunting and

pulmonary circulatory overload.• Cyanosis, arterial

hypoxemia, failure to thrive and CCF, accentuated peripheral pulses (d/t diastolic run off f blood into pulmonary circulation)

PARTIAL ANOMALOUS PULMONARY VENOUS RETURN• Presence of left or right pulmonary veins that

empty into the right circulation (not left atrium), and in some cases into the SVC – L-R shunting at the atrial level, RV and RA dilatation.• Symptoms depend on the shunt. Fatigue and

exertional dyspnea in early adulthood.• Cyanosis and CCF – if >50% of pulmonary

venous flow entering the right circulation.• Angiography is the most useful diagnostic

modality

TOTAL ANOMALOUS PULMONARY VENOUS RETURN• Drainage of all 4 pulmonary veins into the systemic

venous system.• Supracardiac type –most common – all 4 pulmonary

veins drain into the left innominate vein in association with left SVC.

• Oxygenated blood reaches atria via an ASD, PDA present in approx 1/3 of the patient.

• Intracardiac TAPVC – when pulmonary veins return and enter a common confluence and then empties to coronary sinus – all the venous return (coronary, pulmonary, systemic) drain into the right atrium – left atrium.

TOTAL ANOMALOUS PULMONARY VENOUS RETURN• Infracardiac TAPVC – pulmonary venous

confluence drains inferiorly to the ductus venosus – IVC and connects to portal vein system – right atrium receives mixed systemic and pulmonary venous blood - left atrium via ASD.

SIGNS AND SYMPTOMS• Presents as CCF in 50% by one month of

age and in 90% by one year.• Severly cyanotic, respiratory distress,

tachypnea, grunting and retractions of rib cage muscles – in obstructed flow.• Unobstructed flow – asymptomatic with

mild cyanosis.• Murmur of ASD may be present

SIGNS AND SYMPTOMS• ECG – RA and RV enlargement.• CXR – cardiomegaly and pulmonary edema.• Angiography – definitive diagnosis.• Mortality is approx 80% by 1 yr of age

unless TAPVC is surgically corrected.

HYPOPLASTIC LEFT HEART SYNDROME• LV hypoplasia, mitral valve hypoplasia, aortic

valve atresia and hypoplasia of ascending aorta.• Not usually accompanied by extra cardiac

congenital anomalies.• Complete mixing of pulmonary and systemic

venous blood in a single ventricle – connected in parallel with both pulmonary and systemic circulations.• Systemic flow is dependent on PDA.

HYPOPLASTIC LEFT HEART SYNDROME• Abrupt decrease in PVR results in increased

pulmonary blood flow at the expense of systemic blood flow (pulmonary steel) – inadequate coronary and systemic blood flow – metabolic acidosis, high output cardiac failure, VF.• Increased PVR – decreases pulmonary blood

flow – worsening arterial hypoxemia – metabolic acidosis and circulatory collapse.

SIGNS AND SYMPTOMS• CVS collapse and shock at birth – initial presentation.• Weak peripheral pulsations, without major difference

between femoral and brachial pulses.• Mild to moderate cyanosis, but no differential

cyanosis.• CXR – cardiomegaly and plethoric lung fields.• ECG – RVH and reduced RV forces.• Suspected cases – PG infusion – maintain patency of

ductus – prevents further cardiovascular collapse, acidosis and death.

SHUNTS• Classified into :

– Simple shunts (no obstructive lesions)

– Complex shunts (shunt and obstructive lesion)

SIMPLE SHUNTSRESTRICTIVE SHUNTS(SMALL COMMUNICATIONS)

NON RESTRICTIVE SHUNTS(LARGE COMMUNICATIONS)

COMMON CHAMBERS(COMPLETE MIXING)

Large pressure gradient

Small pressure gradient

No pressure gradient

Direction and magnitude more independent of PVR/SVR

Direction and magnitude more dependent on PVR/SVR

Bidirectional shunting

Less subject to control More subject to control

Net pulmonary/systemic blood flow depends on PVR/SVR

Eg: small VSD, amll PDA, blalock shunts,Small ASD

Eg: large VSD, large PDA, large aortopulmonary shunts

Eg: single ventricle,truncus arteriosus, singkle atrium

COMPLEX SHUNTSPARTIAL OUTFLOW OBSTRUCTION

TOTAL OUTFLOW OBSTRUCTION

Shunt magnitude and direction largely fixed by obstructions

Shunt magnitude and direction totally fixed

Shunts depends less on PVR/SVR All flow go through the shunt

Orifice and obstruction determine pressure gradient

Pressure gradient depends on orifice

Eg: TOF, VSD with pulmonic stenosis, VSD with coarctation

Eg: tricuspid atresia, mitral atresia, aortic atresia.

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