CONGENITAL

HEART
DISEASE

 Faulty embryogenesis (week 38)

Defects of individual chambers
(ASD, VSD)
Most malformations
diagnosed in 1st yr of life

FETAL
CIRCULATION

FETAL
CIRCULATION

Circulatory changes at Birth

ed PVR expansion of lungs
ed pulmonary blood flow - ed LA pressure
Thinning of PA walls

Changes after 1st Breath

Alveoli open
Pressure in pulmonary tissue
Pressure in Rt Heart
Pressure in Lt Heart

Fate of Shunts
Foramen Ovale
Closes at birth
Pressure in LA > RA
blood flow from placenta & IVC

Ductus Arteriosus
PA pressure < systemic pressure

Malformations

VSD
ASD
Pulmonary stenosis
PDA
TOF
Coarctation of aorta
Atrioventricular
septal defect

AS
Transposition of
great arteries
Tricuspid atresia
Total anomalous
pulmonary venous
connection
Truncus arteriosus

Etiology
Genetic factors
Single gene mutations
Trisomies or monosomies (21, 13, 15, 18, XO)
Small chromosome deletion (del 22q11.2)

Environmental factors
Rubella
Gestational diabetes
Teratogens

Structural anomalies
Malformations causing L

R SHUNTS

Malformations causing R

L SHUNTS

Malformation causing OBSTRUCTION

Acyanotic Congenital
Heart Ds
Pink Baby (L

R shunts)

Not cyanotic
CHF & Pulmonary HTN
RV enlargement & failure
Eisenmenger syndrome or late
cyanotic congenital ds

Left to right shunt

Cyanotic Congenital
Heart Ds
Blue Baby (R

L shunts)

Hypoxia & central cyanosis

VENOUS EMBOLI become
SYSTEMIC
(Paradoxical embolism)

Right to left shunt

Classic
TOF

Withou
t VSD

With
VSD
Complete

Atrial Septal Defect

Abnormal fixed opening in atrial septum
Usually asymptomatic until adulthood

Atrial Septal Defect

3 major types
SECUNDUM (90%): Defective fossa ovalis
PRIMUM (5%): Next to AV valves, mitral cleft
SINUS VENOSUS (5%): Next to SVC & a/w
anomalous pulmonary veins draining to SVC or
RA

Volume hypertrophy of right atrium &

ventricle

Ventricular Septal
Defect

MC - congenital heart malformation

30% of all CHD

Ventricular Septal Defect

90% - membranous septum
Infundibular VSD below pulmonary valve
Within muscular septum - multiple holes
(Swiss cheese septum)

Ventricular Septal
Defect
Small, hemodynamically insignificant

Between 80% and 85% of all VSDs

< 3 mm in diameter
All close spontanously
Muscular close sooner than membranous

Ventricular Septal
Defect

Moderate VSDs

3-5 mm in diameter
Least common (3-5%)
Without e/o CHF or pulmonary HTN - followed
until spontaneous closure occurs

Ventricular Septal
Defect

Large VSDs

6-10 mm in diameter
Usually membranous & require surgery
Develop CHF & FTT by 3-6mths

Patent Ductus Arteriosus

Persistence of fetal vessel joining pulmonary
artery to aorta
Closes spontaneously - 3-5 days of age
90% isolated

Patent Ductus
Arteriosus

Continuous HARSH, machinery-like murmur

L R, possibly R L as pulmonary pressure
approaches systemic pressure
Closing the defect by indomethacin - life
saving

AVSD
Superior & inferior endocardial cushions fail to
fuse adequately
Partial AVSD primum ASD & mitral
insufficiency
Complete AVSD large combined AV septal defect
& large common AV valve
All four chambers communicate freely

Tetralogy of Fallot
VSD
Obstruction of rt ventricular outflow tract
(subpulmonary stenosis)
Aorta overriding VSD
Right ventricular hypertrophy

Tetralogy of Fallot
SURVIVAL DEPENDS on SEVERITY of
SUBPULMONIC STENOSIS
PINK tetrology if pulmonic obstruction small
Greater the obstruction, greater is the R to L shunt
Boot shaped heart

Transposition of Great
Arteries

Transposition of Great Arteries

NEEDS a SHUNT for survival
PDA or PFO (65%), unstable shunt
VSD (35%), stable shunt
RV>LV in thickness
Fatal in first few months
Surgical switching

TG
A

TRUNCUS
ARTERIOSIS

TRICUSPID ATRESIA
Complete occlusion of tricuspid valve
Hypoplastic RV
Needs a shunt ASD, VSD, PDA
High mortality

Obstructive Malformations

With PDA

Without PDA

Coarctation of Aorta

Coarctation of Aorta
M>F
Commonly seen with Turners syndrome
INFANTILE FORM (proximal to PDA) (SERIOUS)
ADULT FORM (CLOSED DUCTUS)
Bicuspid aortic valve 50% of the time

Pulmonary Stenosis/
Atresia
If 100% atretic - hypoplastic RV with ASD
Clinical severity ~ stenosis severity

Aortic Stenosis/
Atresia
VALVULAR

If severe, hypoplastic LV - fatal

SUB-valvular (subaortic)
Aortic wall THICK BELOW cusps

SUPRA-valvular
Aortic wall THICK ABOVE cusps in ascending
aorta

Congenital Heart Defect

Awareness Week
February 7-14, 2014