Congenital Heart Diseases

Abnormalities of the heart or great vessel that are

present from birth
Faulty embryogenesis at weeks 3-8 (eg. Rubella of
mother)
Half cases detect in first year of life, other in
adulthood
Epidemiology
4-50 per 1000 lives birth
Higher in premature infants and in stillborns
Development
28

FHF
cells
SHF
cells

endocardial cushion (delamination of endocardial

cells into ECM become mesenchymal cells)
Day 50th : septation of ventricle,artria and avv
valves & lead formation of 4 chamber
Etiology and Pathogenesis
Sporadic genetic abnormalities
Single gene mutation ( TBX5,GATA4,NKX2-5)
ASD&VSD defects
Notch pathway (JAGGED1,NOTCH1,NOTCH2)
(TOF,Pulmo.Stenosis)
Small chromosomal lesion deleted (22q11.2)
Environmental factors
Congenital rubella infections
Gestational diabetes
Exposures to teratogen (therapeutic drugs)
Clinical features

21

50

Gene
of FHF
(origin: lateral mesoderm)Cardiac crescent
Day 21st : SHF cells migrate to ant. & post
(CT,Atrium)., the FHF cells become tube (mainly left
ventricle) beating tube
Day 28th: looping of the heart tube & neural crest
migration to the outflow tract (form septa and aortic
arches) & ECM enlarges to produces swelling

3 majors categories causes shunt and obstruction

that emits varies CF.
Shunt abnormal comnctn & channels blood down
pressure gradient.
3 categories :
Left to- right shunts
Right to - left shunts
Obstructions

Left to-right shunt

ASD,VSD,PDA & AVSD

septal defects of heart (ASD,VSD,AVSD)

Increase flow volumes and pressures in right heart
(volumes overload)

+
Left
heart

Right ventricular hypertrophy

Right
heart

heart
failure
Dyspnoea

More blood to pulmonary artery

Increase pulmonary pressure

(adapt: medial hypertrophy & vasoconstriction)
Prolonged constriction fibrosis in pulmonary
lumen

Fatigue
Palpitation
Palpable thrill
Parasternal
heave

Pulmonary hypertension

Prolonged right
ventricle
ejection
Pressures at right heart high enough to
time
overcome left heart pressure
Reversal of shunts occur
Cyanosis

Right-to-left
shunt
Left atrium dilate
valve ring
dilate
Incomplete
closure of mitral
valve

Pathophysiology

Left
ventricle
hypertroph

Pressures left > right

Blood flow from left to right

Pansystoli
c murmur

Reduce Regurgitation
VSD
complianc
e
(VSD)
S3
large
heard
volume of
blood
shunted to
right

CLINICAL FEATURES

ASD

Fixed splitting
second heart
sounds (ASD)

Failure of the formation

of the membranous part
of ventricular septum

Fixed opening in atrial septum

due to incomplete tissues
formation
3 major types:
Ostium primum ASD (5%)
Septum primum &
endocardial cushion fails to
fuse
Ostium secundum ASD (90%)
Septum secundum does
not enlarged enough to
cover ostium secundum
Sinus venosus ASD (5%)

Patent Ductus Arteriosus(PDA)

90% occur as isolated anomaly
Communication from left PA to Aorta through
patent ductus arterious

Pathophysiology
Collapsed pulse at
periphery
Left & right shunts at ductus level (bounding)
Wide pulse
Increase pulmonary flow from aorta pressure
PDA

Clinical features
Dyspnoea
Fatigue
Palpitation
Palpable thrill
Parasternal heave
S3
Loud S2
Pansystolic
murmur
Mitral
regurgitation
Sign of congestive
heart failure

Clinical features
Dyspnoea
Fatigue
Palpitation
Palpable thrill
Parasternal heave
Fixed splitting of S2
Mild systolic murmur
Mitral regurgitation
Sign of congestive heart
failure

Turbulent
shunting
Machinery
murmur
Turbulent through
mitral valve
Mid diastolic
murmur

Increase volume
at left heart
Distention of
left heart
Vigorous nonsustained
pulsation
Hyperkinetic apex
beat

Right-to-left shunts

Decreased
diastolic BP
Increased
systolic BP
Delay Lt. ventricle
emptying
Slow closure
of aortic
valve
Reverse
splitting S2

Tetralogy of Fallot (TOF)

Four cardinal features of TOF:
VSD
Pulmonary stenosis
Overriding of aorta
Right ventricular hypertrophy
Morphology
Boot-shaped
Ventricular hypertrophy
Clinical Features
Cyanosis
Clubbing
Polycythaemia
Thrill
Para sternal heave
Mid systolic murmur

Turbulent right
ventricle outflow

Increase pulmonary flow

Right-to-left shunts at ventricular level
Increased deoxygenated blood

Pulmonary
systolic
ejection
Increased
pulmonary art.
pressure
Closure of
pulmonary valve too
soft + late
Single 2nd
heart sound

Central cyanosis
Hypoxia stimulate kidney & liver
Increase erythropoietin
Increased RBC
Polycythaemia

Transposition of Great Arteries

Pathophysiology
Pulmonary stenosis
Infundibular resistance

RightVSD
ventricle
volume loaded
pressure

Right ventricle
hypertrophy

Produces ventriculoarterial discordance

The embryogenic defect is due to abnormal
formation of truncal and aortapulmonary septa
Mixing of blood
Clinical features depend on :
Degree mix of blood
Magnitude of tissue hypoxia
Ability of right ventricle to maintain systemic
circulation
Clinical features
Right ventricular hypertrophy

 Left ventricle atrophy

Die in 1st few months of life

Obstructive Congenital
Anomalies

Coarctation of Aorta
Narrowing or constriction of aorta
Two classic form :
infantile
adult
Clinical Features
HTN in upper extremities
Weak pulses
Hypotension in lower extremities

Radiograph notching
undersurfaces of rib
Systolic murmur
Thrill
Cardiomegaly
Pulmonary stenosis and atresia
Obstruct at the pulmonary valve
Clinical features
Right ventricular hypertrophy
Posstenotic dilatation
Aortic stenosis and atresia
Narrow and obstruct of aorta
Three major locations:
Valvular
o HYPOPLASTIC CUSPS
o THICKENED CUSPS
o ABNORMAL NUMBER OF
CUSP
o Hypoplastic- Left -Heart
Syndrome
Subvalvular
o Dense endocardial fibrous
below cusps
Supravalvular

Investigation &
Management
Atrial Septal Defect (ASD)
INVX:
ECG:
Ostium Secundum Right axis
deviation
Ostium primum Left axis deviation
Sinus venosus Invrtd P-wave
Chest X-ray

Dilates PA,RA,RV = Jug handle

appearance

ECG:
Left atrial enlargement
X-ray:
Calcified at ductus
Aneurysm of ductus

Treatment:
Surgical closure (3-6 yr)
ASD close spontaneously upto 2 years
Prosthetic closure by pericardial graft

Ventricular Septal Defect (VSD)

INVX:
ECG changes:
Katz- Watchel phenomenon
(large equiphasic QRS in V2 V3 V4)
X-ray:
Left ventricular enlargement w
pulmonary plethora
Treatment :
Surgical closure
Ideal age < 2yr
Pulm : Sys 1.5:1

Patent Ductus Arteriousus ( PDA)

INVX :

Treatment:
Medical :
Indomethacin 1st -7th day
(MOA: decreased PG-E level
promotes ductal closure)
Surgical :
Ligation & excision of PDA
Ideal age below 2yr
Transcatheter closure
Tetralogy of Fallot (TOF)
INVX:
ECG :
Large R wave
X-ray :

Boot shaped heart

Treatment:
Medical :
Treat

cyanotic:
Squatting
Nasal O2
Morphine
Beta blockers (propanolol)
(MOA: relieve infundibular
spasms)
Sodium bicarb met. Acidosis

Surgical:
Blalock- Taussig procedure
Waterston procedure
Potts procedure