1. INTRODUCTION TO CONGENITAL
HEART DISEASE.
Dr.B.BALAGOBI

2. Epidemiology
• Prevalence:0.5-0.8% of live births (8/1000).
• Leading structural malformation in infants.
• Etiology:
– Unknown
– multifactorial inheritance
• Genetic(Chromosomal/Single gene)
• Teratogen(Maternal diseaes/Drugs)
• 10-15% have extracardiac anomalies(VACTERL)
• Gender differences:ASD,VSD,PDA & Pulmonic stenosis more common
in girls,left sided lesions in boys.

3. Aetiology
• Genetic
– Trisomies 13, 18, 21[Down;s syn]AVD,VSD,ASD,TOF)
– Monosomy X (Turner’s syndrome): Coarctation of aorta
– 22q11 microDeletion (DiGeorge syndrome): Conotruncal
abnormalities
– Single gene defects (Noonan’sPS,Marfan synd AR,MR, Holt-
Oram, Ellis-van Crevald, Alagille)
• Maternal disorders
– Rubella PS,PDA
– SLE
– GDM HOCM,VSD
– Fetal alcohol syndrome
• Drugs:
– Warfarin,Lithium,Phenytoin,Na valproate,Retinoic acid

4. ANATOMY

7. FETAL CIRCULATION-EMBRYOLOGY
• From placenta via umbilical vein
• Blood by pass liver via Ductus venosus to IVC
• Mix with blood from lower limb
• This blood enters RA,Pressure in RA>LA
• Major part of this blood pass via Foramen ovalae to
the LA
• Mix with desaturated blood from lungs at LA then
enters to LV to Aorta
• Coronary & carotid are the first branches
– Well oxygenated blood

8. FETAL CIRCULATION
• Desaturated blood from SVC flow to RA to RV
to pulmonary trunk.
• Major part of its blood pass directly through
Ductus arteriosus in to desending aorta.
• Then blood goes to placenta via umbilical
Artery.

9. CHANGES AT BIRTH
• At birth first breathresistance to pulmonary
blood flow decrease  rise in LA pressure
• Placenta removal reduce venous return to RA 
reduce RA pressure  Foramen ovale closed
• Closure of
– Umbilical artery
– Umbilical vein
– Ductus venosus
– Ductus arteriosus
– Foramen ovale

11. ACYANOTIC HEART DISEASE
• VSD:Commonest congenital heart disease
• PDA
• PS
• ASD
• Coarcation of aorta
• AS
• AVD

12. CYANOTIC DISEASE
• TOF(Tetralogy of fallot)
• TGV(Transposition of great vessels)
• Tricuspid atresia
• Truncus arteriosus
• Total anomalous of pulmonary venous drainage
• Hypoplastic left heart syndrome
• Pulmonary atresia
• Ebstein anomaly

13. Congenial Heart Disease divisons
• Congenital Heart Lesions that INCREASE Pulmonary Arterial Blood
Flow  Plethoric lung  Recurrent Chest infection.
– Atrial Septal Defect
– Ventricular Septal Defect
– Patent Ductus Arteriosis
– Complete Atrioventricular Canal
– Total Anomalous Pulmonary Venous Connection
– Truncus Arteriosus
– Transposition of the Great Arteries
• Obstructive Congenital Heart Lesions
– Pulmonary Stenosis
– Aortic Stenosis
– Coarctation of the Aorta
• Congenital Heart Lesions that DECREASE Pulmonary Arterial Blood
Flow
– Tetralogy of Fallot
– Tricuspid Atresia
– Ebstein’s Anomaly

14. PATHOPHYSIOLOGY
• VSD,PDA Left to right shunt(increased pulmonary blood
flow-No cyanosis)Load on left ventricle
LVHCardiomegaly(Precordial bulge) Secondary
Pulmonary hypertension(Loud P2,Parasternal
heave)RVH Reversal of shunt
Cyanosis(Eisenmenger syndrome)
• But ASD first cause RVHso parasternal heave does not
indicates Pulmonary hypertension.

15. CVS Examination
• Pulse,JVP,BP
– Rate(upper limit 160-
100,rhythum, volume(small:AS,bounding:anaemia,AR,PDA)
• Inspection:precordial bulge,Scar,visible pulsation
• Palpation:Apex,thrill,heave
• Auscultation
– Heart sounds S1,S2,S3(Normal in young children)
– Split of S2
– Murmur(Timing,duration,loudness,radiation
• hepatomegaly

16. PRESENTATIONS OF CHD
• Antenatal cardiac USS
• Detection of murmur
• Cyanosis
• Respiratory distress
• Heart failure
• Shock

17. Heart murmurs
• Ejection systolic murmur
– Ventricular outflow narrowing(AS,PS),ASD
– May be normal
• Pan systolic murmur
– VSD,MR,TR
• Continuous murmur
– PDA
– Venous hum(due to turbulent flow in head & neck
veins,disaapears in lying down)
• Hall marks of innocent murmurs
– Systolic murmur,localised to left sternal edge,no diastolic
component,no radiation,no thrill,no added sound,No
symptoms
• There may absence of murmur in severe CHD like
PDA,large VSD

18. Innocent/functional murmurs
• soft
• Systolic
• No diastolic component
• Confined to small area,left sternal edge
• No parasternal thrill
• No radiation
• Normal heart sounds
• No added sound
• Asymptomatic patient

19. HEART FAILURE
• Symptoms
– Breathlessness(Esp @ feeding/exertion)
– Sweating
– Poor feeding
– Recurrent RTI  Harrison’s sulcus
• Signs
– FTT,Tachypnoea,Tachycardia
– Heart murmur,Gallop rhythum
– Cardiomegaly,Hepatomegaly
– Cool peripheries
– Precordial bulge

21. T/F Circulatory changes that occur at birth
include?
A. Rise in left atrial pressure
B. Drop in the pulmonary vascular resistance
C. Rise in the volume of blood returning to the
right atrium
D. Closure of the foramen ovale
E. Closure of the ductus arteriosus

22. T/F In fetal circulation?
A. Umbilical vein carries oxygenated blood
B. Blood flow from left to right through foramen
ovale
C. Pulmonary arterial pressure is high
D. Oxygen saturation in right atrium is more
than left atrium
E. Coronary arteries origin from the pulmonary
artery

23. T/F Features of functional murmur?
A. Usually systolic
B. Associated with thrill
C. Common at left parasternal edge
D. Incidence more common in 1 year than 10
year
E. Radiates to axilla

24. T/F Right ventricular hypertrophy?
A. Is a feature of Transposition of great vessels
B. Is a feature of tetralogy of fallot
C. Is a characteristic feature of tricuspid atresia
D. In ASD indicates pulmonary hypertension
E. Cause tall R wave in V1 ECG lead.