This document provides an overview of congenital heart diseases (CHDs): 1. CHDs are defects in heart structure and function that exist at birth, though symptoms may not appear until childhood or later. They occur in approximately 1% of live births and are a leading cause of birth defect mortality. 2. CHDs can be acyanotic (without cyanosis) or cyanotic (with cyanosis) and include defects such as ventricular septal defects (VSD), atrial septal defects (ASD), patent ductus arteriosus (PDA), tetralogy of Fallot, and transposition of the great arteries. 3. While the exact causes of most CHDs are unknown

1. Congenital heart diseases:
A simplified approach…
NOV, 12, 2020
Dr. Kamal Murtaza
MD, DNB, DNB SS (Pediatric Cardiology)
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2. Introduction
• As name suggests defect in heart structure and
function exists at birth; though its manifestations or
detection may be in childhood sometimes later
• Few will manifest in adulthood and uncommonly
are detected only at autopsy after a death from
some other cause
• Occurrence 1% of live-births (8-10/1,000 live births)
• Among birth-defects, they are leading cause for
mortality
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3. Types of Congenital heart diseases
• I. Acyanotic:
• A. Those with increased pulmonary blood flow
(VSD,ASD,PDA,AP window)
• B. Those with Obstructive lesions: ( AS, PS, Coarctation
of aorta)
• C. Miscellaneous group: (Congenital heart block, MVPS)
• 2. Cyanotic-
• A. Those with reduced or normal PBF: (Tetralogy of
Fallot, Tricuspid atresia with PS, Pulmonary atresia,
Single ventricle-PS)
• B. Those with increased PBF: (Truncus arteriosus,
TAPVC, D-TGA)
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4. Acyanotic Congenital heart defects
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5. Cyanotic Congenital Heart defects
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6. Etiology
• No definitive etiology: Majority
• Familial recurrence (in children, siblings)
• Folic acid deficiency (just as neural tube defects)
• Maternal diseases like diabetes, SLE,
phenylketonuria
• Maternal alcohol consumption/ certain drug
intake like Li
• Syndromes and genetic defects
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7. Common investigations
• History and examination plays vital role
(Pulses, blood pressure, heart sounds and
murmurs)
• ECG, CXR: Not definitive diagnosis but gives
clues and direction
• 2D- ECHO: Definitive diagnosis in majority
• CT/ MRI (with/ without contrast): Needed as
additional investigations in few
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8. VSD
• Most common CHD (20-30%)
• Communication between LV
and RV due to defect in
ventricular septum
• Types depends on position of
defects (Peri membranous,
inlet, outlet, muscular)
• Sizes can be small, moderate or
large depending on the defect
magnitude
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9. VSD: Hemodynamics
• LV is high pressure than RV, so shunt is from
LV to RV
• Shunt occurs in systole, so blood moves from
LV to RV in systole which is also contraction in
systole-> so volume overload of RV does not
occur->PA receives extra blood so it will be
dilated—> Lungs congested—> LA, LV dilated
due to volume overload
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10. VSD: Clinical features
• Small defects: Asymptomatic and diagnosed
incidentally by loud murmur (Pansystolic murmur)
• Moderate defects can be asymptomatic in the initial
months of life and then become symptomatic
• Large defects will be symptomatic after 4-6 weeks of
life after regression of neonatal PVR, presenting as
failure to thrive, recurrent chest infections, excessive
sweating, suck rest suck cycles. Later when the PVR
becomes fixed they developes cyanosis again:
Eisenmengerization
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11. ASD
• 2nd most common CHD (15-20%)
• Communication between the 2 atria
• More common in females overall
• Types:
• Ostium secundum (Most
common-75%)
• Ostium Primum(15-20%)
• Sinus venous defect (5-10%)
• Coronary sinus defect (<1%)
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12. ASD: Hemodynamics
• LA is at a slightly higher pressure than RA
• Shunt occurs in diastole—> So, volume
overload of RA occurs and hence RV
• Compliance of RV is good, so it takes time for
RV to dilate
• Subsequently PA dilates and lungs gets extra
blood
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13. ASD: Clinical features
• Asymptomatic in the early years of life,
diagnosed incidentally due to a murmur
• Symptoms may develop as age advances
• >40 years age: Atrial arrhythmias
• Spontaneous closure known if <5 mm
• PVR in 14% cases beween 20-40 years of age
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14. PDA
• 5-10% of all CHD
• Clinical manifestations depends
on diameter and length of PDA
and relative systemic and PVR
• Frequency of PDA increases
with decreasing gestational age
and decreasing birth weight
• Spontaneous closure in preterm
in 1st year of life: 35-75%
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15. PDA cont…
• Small PDAs in full term neonates may close
upto 3 months of age, whereas large PDAs are
unlikely to close spontaneously
• Left sided chambers are volume overloaded in
this condition and the lungs gets extra blood
• Large PDAs presents like features of large non
restrictive VSD
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16. AP-window
• Rare: 0.1% of all CHDs
• Mostly of moderate to large size
• 50% have associated anomalies
• Clinical manifestations depends
on diameter of APW, relative SVR
and PVR and associated lesions
• Large APWs associated with early
development of advanced PVR
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17. PS
• Common CHD occurring
either as an isolated lesion (8-
10%) or in association with
other CHD
• Obstruction at valve: 80-90%,
rest sub or supra valvular
• Isolated sub valvular PS is rare
and is associated with VSD
• 10-20% dysplastic pulmonary
valve 17

18. PS cont…
• Associated with syndromes: Noonan’s, congenital
rubella, allagelle, LEOPARD, Holt Oram
• Older patients with valvular PS often asymptomatic,
diagnosed incidentally by murmur
• Severe PS can lead to rt. Heart failure
• Neonates and infants with critical PS can be
cyanotic due to rt—> lt shunt across ASD
• Ps can remain stable, progress or rarely improve
• Prognosis: Excellent (15years survival: 94%)
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19. AS
• Valvular (80-85%), subvalvular
(15%) or subra valvular
• Males more common
• Unicuspid/ Bicuspid
• BAV (1% general population):
AS—> 0.2-0.4/1000 live births
• Dilatation of ascending aorta
(aortopathy) worsens over
time
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20. AS cont…
• A condition of fixed cardiac output; Cardiac
output cannot increase with exercise
• Supra valvular AS associated with William’s
syndrome (also with peripheral PS)
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21. COA
• 6-8% of all CHD
• Males more common
• Associated with Turner’s
syndrome
• BAV (80%)
• Clinical presentation
depends on age of
presentation
• CHF: Neonates and infants
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22. COA cont…
• Upper limb arterial hypertension: Older
children and adults
• Diagnosis can be incidental in older children
while they are being investigated for
hypertension
• Late repair of these defects increases the risk
of residual hypertension and early
atherosclerotic cardiovascular disease
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23. TOF
• Most common Cyanotic CHD: 5%
• Has 4 components:
• Large unrestrictive
maligned VSD to equalise
the pressures of RV and LV
• Right ventricular outflow
obstruction
• Over riding of aorta
• RV Hypertrophy
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24. TOF cont…
• Two-thirds of neonates born with TOF are cyanotic
at birth, but by 6 months of age over half of them
have turned cyanotic at rest
• Intermittent hyper cyanotic spells are one of the
defining features of TOF (peaks around 2nd to 6th
months of life; infrequent after 2 years of age as
child years to squat)
• Untreated TOF: 50% will not survive beyond 3 years
of age
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25. Management of cyanotic spells…
i. Oxygen administration
ii. Place child in mother’s lap in knee-chest position
iii. IVF bolus of NS at 10–20 ml/kg
iv. Morphine 0.1–0.2 mg/kg IV
v. IV metoprolol 0.1 mg/kg over 5 min (can be repeated every 5 min
provided no hypotension or bradycardia) or short-acting esmolol
infusion
(50–200 μg/kg/min)
vi. Sodium bicarbonate 1–2 mEq/kg IV after dilution
vii. Blood transfusion if required
viii. For refractory spells : Phenylephr ne infusion at 2–5 μg/kg/min, IV
ketamine (0.25–1.0 mg/kg bolus dose), intubation, and mechanical
ventilation (general anesthesia)
ix. Severe refractory cyanotic spell is an indication for emergency
surgery/intervention 25

26. Tricuspid atresia
• Atretic tricuspid valve
• ASD is an obligatory
component for venous
blood to move from RA—
> LA
• A subtype of single
ventricle physiology
• Presents with cyanosis in
the neonatal age group
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27. Truncus arteriosus
• Single arterial vessel from the base of
the heart and gives origin to coronary,
pulmonary and systemic arteries
• <1% of CHD
• A contruncal anomaly (Deletion of
22q11.2 in 40% patients)
• Hemodynamic consequences depends
on the size of PAs, PVR, truncal valve
regurgitation/ stenosis
• Presentation in first few weeks of life
due to CHF and failure to thrive
• Untreated cases survival is just 10%
post infancy
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28. TGA
• Most common cyanotic CHD
at birth: 5% of all CHDs
• Boys>Girls
• More common in infants of
diabetic mothers, mothers
with poor nutrition, maternal
alcohol intake
• AV concordance, VA
discordance
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29. TGA cont…
• Serious disease presenting within a few days of
life
• 90% of untreated cases die in infancy; with
surgery long term survival > 90% with very low
reintervention rate
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30. TAPVC
• 1% of all CHD
• All 4 Pulmonary veins open
into RA and nothing opens
into LA
• ASD is obligatory
• 4 types:
• Supracardiac (45-50%)
• Cardiac (15-20%)
• Infracardiac (26-28%)
• Mixed (5-8%)
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31. TAPVC cont…
• Can be obstructed or non obstructed
• If untreated 85% will die in infancy
• Obstructed TAPVC is the only cyanotic CHD
where prostaglandin infusion should be
avoided
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32. Ebstein’s anomaly
• < 1% of all CHD
• Basically there is failure of delimitation
of tricuspid leaflets from myocardium
• Septal and posterior leaflets involved
• Results in apical displacement of the
functional tricuspid annulus and
rotation towards outflow tract
• A part of RV gets atrialized
• TR invariably present and RA is dilated
• Some patients may be cyanosed due
to right to left shunting at atrial level
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33. Ebstein’s cont…
• Accessory AV conduction pathways (15-20%) and intertribal
communication (80-94%)
• Patients usually presents either in neonatal period or during
adolescent or adult life
• Neonates presents with cyanosis and heart failure, at times
with functional pulmonary atresia with duct dependent
pulmonary circulation
• Older patients presents with murmur, arrhythmias or
cyanosis
• Prognosis is poor in those diagnosed in fetal or neonatal life
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34. Congenital CHB
• Third degree heart block from diagnosed in
fetus, within first 28 days of life
• Incidence: 1 in 15,000-20,000 births
• Association with maternal SLE (Anti Ro/ La)
• Can be isolated or associated with other CHD
• Presents with bradycardia (most commonly)
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35. Cardiomyopathies
• Types:
• DCM
• HCM
• RCM
• ARVD
• LV Non compaction
• They can be inherited, caused by viral infections,
toxins, chemotherapeutic drugs, metabolic disorders,
or be a part of mitochondrial or systemic diseases
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36. Common syndromes
• Rubella: PS, PDA
• Down’s: AVSD, VSD
• Turner: BAV, COA
• Marfan: Aortic root dilatation
• Williams: Supravalvular AS, peripheral PS
• 22q11.2 micro deletion: Digeorge syndrome:
Cono-truncal anomalies
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37. Surgeries
• ASD, VSD: Patch closure
• PDA: Ligation
• COA: End to end anastomosis, Subclavian flap
• TOF: BT shunt, Intracardiac repair (ICR)
• SV physiology: Glenn shunt and TCPC
• TGA: ASO
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38. Interventions
• Device closures: ASD, VSD, PDA
• PDA stenting: For duct dependent lesions
• COA stenting
• Coil closure: Small PDAs, MAPCAS
• RVOT stenting: TOF
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39. Genetic counselling
• Children of parents with CHD have chances of
having CHD (1-3%)
• Siblings of patients with CHD have chances of
CHD
• Left sided obstructive lesions have more
chances of recurrence (upto 7%)
• Syndromes with CHD
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40. Take home message
• CHD is most common congenital defect
• Not so rare: 8-10/1,000 live births
• Presentation can be in neonatal age, infancy,
childhood, adolescence or adult age
• High index of suspicion needed to diagnose in
early age group
• Referral to appropriate pediatric cardiac
centre is important
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41. THANK YOU
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