MOST COMMON CONGENITAL HEART

ANOMALIES

Most Common Cardiac Congeni

tal Anomalies

-Atrial septal defect (ASD)

•Usually aSx; often found on routi
ne preschool physical exam
•Predispose to CHF in 2nd and
3rd decades; also predipose to
stroke b/c of embolus bypass tra
ct (Eisenmenger’s complex)
•Si/Sx = loud S1, wide fixed split
S2, midsystolic ejection murmur
•Dx: Echocardiography
•Tx: surgical patching of bypass,
(more important for females b/c
of eventual increased cardiovasc
ular stress of pregnancy

-Ventricular septal defect

•MC CONGENITAL HEART DEFE
CT
•30% of small-to-medium defec
ts close spontaneously by age 2
•Si/Sx: small defects may be com
pletely aSx throughout entire life.
Large defects—>CHF, decreased
development and growth, freque
nt pulmonary infxns, holosystolic
murmur over entire precordium,
maximally at 4th left intercostal
space

-Tetralogy of Fallot
a) VSD b) pulmonary valve steno
sis c) Rt ventricular hypertrophy
d) Overriding aorta receiving blo
od from both ventricles
•Si/Sx: Acyanotic at birth w/ incre
ased cyanosis over first 6 months
“Tet spell”= acute cyanosis and
panic in child; child adopts s squa
tting posture to improve blood flow to lungs
•CXR classic “boot shaped conto
ur” b/c of Rt ventricular enlargem
ent
•Dx: Echocardiography
•Tx: surgical repair of VSD, repair
of pulmonary valve stenosis

-Patent Ductus Arteriosus

•increased incidence w/ preterm
births
•predisposes to Endocarditis and
pulmonary vascular disease
•Si/Sx: continuous “machinery
murmur” heard best at 2nd left
interspace, wide pulse pressure,
hypoxia
•Dx: Echocardiography or cardiac
catheterization
Tx; Indomethacin (blocks prosta
glandins, induces closure) for inf
ants. For older children, surgical
repair

-Transposition of great vessels

•Aorta comes off the Rt ventricle
pulmonary artery comes off Left
ventricle
•Must have persistent A-V commu
nication or disease is incompatib
le w/ life (PDA) or persistent foram
en ovale
•Si/Sx: marked cyanosis at birth
early digital clubbing, often no
murmur
•CXR: enlarged egg-shaped heart
and increased pulmonary vascula
ture
•Dx: Echocardiography
•Tx: fatal within several months of
birth w/o treatment

-Coarctation of aorta
•Congenital aortic narrowing
•often aSx in young child
•Si/Sx: decreased BP in legs with
normal BP in arms, continuous
murmur over collateral vessels in
back,
•CXR classic sign: “rib notching”
•Dx: CT or aortogram
•Tx: surgical: resection of coarcta
tion with anastomosis

-Eisenmenger’s Complex
•VSD + Pulmonary hypertension
•Overriding aorta variably prese
nt
•Right ventricular hypertrophy—>
flow reversal through the shunt so
that R—>L shunt develops
•Cyanosis 2ry to lack of blood fl
ow to lungs: cyanosis, systolic
murmur, clubbing of fingers
•Allows venous thrombi (DVT to
bypass lung causing systemic
paradoxical embolization
•Dx: Echocardiography
•Tx: complete closure for simple
defects

-Pulmonary valve stenosis

•The pulmobary valve is too narr
ow w/ reduction of blood flow from Rt ventricle to lungs result
ing in Rt ventricular hypertrophy
•Heart murmur, cyanosis, dyspn
ea, dizziness
Dx: Echocardiogram
•Tx: valve replacement

-Hypoplastic left heart syndrome

•severe congenital heart defect in
which the Lt side of the heart is un
derdeveloped
•The mitral valve is too small or
completely closed. Lt ventricule is
very small. The aortic valve is very
small or closed (atretic)
•Cyanosis, difficulty breathing,
difficulty feeding, lethargy
•Dx: Echocardiography, ECG, CXR
cardiac cath, MRI
•Tx: Staged recobstruction (Norw
ood, Glenn and Fontan procedure)

-Tricuspide atresia
•Congenital defect where the tric
uspid valve is absent or abnorma
lly developed blocking blood flow
from Rt atrium to Rt ventricle
•Classic type w/ pulmonic stenos
is + VSD
•Tx: combibes medicine, surgery
and cardiac cath

-Truncus arteriosus
•Cyanotic cardiac congenital hea
rt disease associated w/ CHF
•Aorta and pulmonary arteries ari
se as a single vessel accompani
ed by large VSD
•Tx: surgical

-Total anomalous pulmonary veno

us connection
•All four pulmonary veins do not
drain in Lt atrium but instead drain
in Rt atrium
•cyanosis, breathlessness, heart
murmurs
•ECG, CXR, Echocardiogram, card
iac cath
•Tx: surgical connecting the 4 vei
ns to the Lt atrium

-Ebstein’s anomaly
•Tricuspid regurgitation + Rt atrial
enlargement (may have ASD) +
small Rt ventricle +Wolff-Parkinson-White arrhythmia
•SOB, fatigue, racing heart, heart
murmur, cyanosis
•Dx: Echocardiogram, ECG, CXR
•Tx: Tricuspid valve replacement
w/ repair of atrial enlargement and repair of ASD. If arrhythmia is
present, ablation is required

-Complete atrioventricular septal defect

•There are holes between both
chambers of the Rt heart and Lt heart and the valves that control
blood flow are not formed correct
ly. There is a large hole in the cen
ter of the heart allowing blood to
flow between all 4 chambers.
There is also an incomplete defe
ct (smaller defect)
•Also called Endocardial Cushion
Defect
•Conmon in Down’s syndrome
•Tx: patching the holes w/ repair
of damaged valves

-Aortic valvular stenosis

•Aortic valve is too narrow block
ing the blood flow from the Lt ven
tricle to the Aorta
•Rarely congenital. More common
ly due to aging (Ca++ build up, Rh
eumatic fever)
•May be asymptomatic or cause
breathlessness, chest pains, syn
cope, palpitations, heart murmur
•Dx: ECG, Echocardiography
•Tx: Aortic valve replacement