Congenital Heart

Disease
Yusra Pintaningrum
SMF Kardiologi & kedokteran vaskular
FK universitas Mataram / RSUP NTB
2013

introduction

Present in 0.8% of North American and European

children

Most common category of congenital structural

malformation

Commonly divided into

noncyanotic (L R)
cyanotic (R L)
categories based on direction of shunting

Acyanotic Congenital Heart

Disease
Left-to-Right Shunt Lesions

Atrial Septal Defect (ASD)

Ventricular Septal Defect (VSD)

Atrioventricular Septal Defect (AV Canal)

Patent Ductus Arteriosus (PDA)

Obstruction to blood flow

Pulmonic stenosis (PS)

Aortic stenosis (AS)

Aortic coarctation

Atrial Septal Defect

ASD is an opening in the atrial septum

permitting free communication of blood
between the atria. Seen in 10% of all CHD.

Atrial Septal Defect

There are 3 major types:
Secundum ASD at the Fossa Ovalis, most common.
Primum ASD lower in position & is a form of ASVD, MV
cleft.
Sinus Venosus ASD high in the atrial septum,
associated w/partial anomalous venous return & the
least common.

Atrial Septal Defect

Secundum ASD

Sinus Venosus ASD

Atrial Septal Defect

Clinical Signs & Symptoms
Rarely presents with signs of CHF or other cardiovascular
symptoms.
Most are asymptomatic but may have easy fatigability or
mild growth failure.
Cyanosis does not occur unless pulmonary HTN is present.

Atrial Septal Defect

Clinical Signs & Symptoms
Hyperactive precordium, RV heave, fixed
widely split S2.

II-III/VI systolic ejection murmur @ LSB.

Mid-diastolic murmur heard over LLSB.

Atrial Septal Defect

Question:
What causes the systolic & diastolic murmurs of ASD?

Answer:
Systolic murmur is caused by increased flow across the
pulmonary valve, NOT THE ASD.

Diastolic murmur is caused by increased flow across

the tricupsid valve & this suggest high flow Qp:Qs is
2:1.

Atrial Septal Defect

Treatment:

Surgical or catherization laboratory closure is

generally recommended for secundum ASD w/
a Qp:Qs ratio >2:1.

Closure is performed electively between ages

2 & 5 yrs to avoid late complications.

Surgical correction is done earlier in children

w/ CHF or significant Pulm HTN.

Atrial Septal Defect

Treatment
Once pulmonary HTN w/ shunt reversal occurs
this is considered too late.

Mortality is < 1%.

Atrial Septal Defect

Question:
Is endocarditis prophylaxis required for
ASD?

Answer:
NO

Ventricular Septal
Defect

VSD is an abnormal opening in the

ventricular septum, which allows free
communication between the Rt & Lt
ventricles. Accounts for 25% of CHD.

Ventricular Septal
Defect
4 Types
Perimembranous (or membranous) Most
common.
Infundibular (subpulmonary or supracristal
VSD) involves the RV outflow tract.
Muscular VSD can be single or multiple.
AVSD inlet VSD, almost always involves
AV valvular abnormalities.

Ventricular Septal
Defect
Small, hemodynamically
insignificant

Between 80% and 85% of all VSDs

< 3 mm in diameter

All close spontanously

50% by 2 years

90% by 6 years

10% during school years

Muscular close sooner than

membranous

Ventricular Septal
Defect
Hemodynamics

The left to right shunt occurs secondary to PVR

being < SVR, not the higher pressure in the LV.

This leads to elevated RV & pulmonary

pressures & volume hypertrophy of the LA &
LV.

Ventricular Septal
Defect
Clinical Signs & Symptoms

Small - moderate VSD, 3-6mm, are usually

asymptomatic and 50% will close spontaneously
by age 2yrs.

Moderate large VSD, almost always have

symptoms and will require surgical repair.

Ventricular Septal
Defect
Clinical Signs & Symptoms

II-III/VI harsh holosystolic murmur heard along the LSB, more

prominent with small VSD, maybe absent with a very Large
VSD.

Prominent P2, Diastolic murmur.

CHF, FTT, Respiratory infections, exercise intolerance

hyperactive precordium. Symptoms develop between 1 6
months

Ventricular Septal
Defect
Treatment

Small VSD - no surgical intervention, no

physical restrictions, just reassurance and
periodic follow-up and endocarditis prophylaxis.

Symptomatic VSD - Medical treatment

initially with afterload reducers & diuretics.

Ventricular Septal
Defect
Treatment
Indications for Surgical Closure:

Large VSD w/ medically uncontrolled symptomatology

& continued FTT.

Ages 6-12 mo w/ large VSD & Pulm. HTN

Age > 24 mo w/ Qp:Qs ratio > 2:1.

Supracristal VSD of any size, secondary to risk of

developing AV insufficiency.

Atrioventricular Septal
Defect

AVSD results from incomplete fusion the the

endocardial cushions, which help to form the
lower portion of the atrial septum, the
membranous portion of the ventricular septum
and the septal leaflets of the triscupid and
mitral valves.

They account for 4% OF ALL CHD.

Atrioventricular Septal
Defect

Question:
What genetic disease is AVSD more
commonly seen in?

Answer:
Downs Syndrome (Trisomy 21), Seen in 20-25%
of cases.

Patent Ductus
Arteriosus
PDA Persistence of the normal fetal vessel that
joins the PA to the Aorta.
Normally closes in the 1st wk of life.
Accounts for 10% of all CHD, seen in 10% of
other congenital hrt lesions and can often play a
critical role in some lesions.
Higher incidence of PDA infants born at high
altitudees (>10,000 feet)
Female : Male ratio of 2:1
Often associated w/ coarctation & VSD.

Patent Ductus
Arteriosus

Patent Ductus
Arteriosus

Question:
What TORCH infection is PDA associated with?

Answer:
Rubella

Patent Ductus
Arteriosus
Hemodynamics

As a result of higher aortic pressure, blood

shunts L to R through the ductus from Aorta to
PA.

Extent of the shunt depends on size of the

ductus & PVR:SVR.

Small PDA, pressures in PA, RV, RA are normal.

Patent Ductus
Arteriosus
Hemodynamics

Large PDA, PA pressures are equal to systemic

pressures. In extreme cases 70% of CO is
shunted through the ductus to pulmonary
circulation.

Leads to increased pulmonary vascular disease.

Patent Ductus
Arteriosus
Clinical Signs & Symptoms
Small PDAs are usually asymptomatic
Large PDAs can result in symptoms of CHF,
growth restriction, FTT.
Bounding arterial pulses
Widened pulse pressure
Enlarged heart, prominent apical impulse
Classic continuous machinary systolic murmur

Patent Ductus
Arteriosus
Treatment

Indomethacin, inhibitor of prostaglandin

synthesis can be used in premature infants.

PDA requires surgical or catheter closure.

Closure is required treatment heart failure &

to prevent pulmonary vascular disease.

Usually done by ligation & division or intra

vascular coil.

Mortality is < 1%

Obstructive Heart
Lesions

Pulmonary Stenosis

Aortic Stenosis

Coarctation of the Aorta

Pulmonary Stenosis
Pulmonary Stenosis is obstruction in the region of either
the pulmonary valve or the subpulmonary ventricular
outflow tract.
Accounts for 7-10% of all CHD.
Most cases are isolated lesions
Maybe biscuspid or fusion of 2 or more leaflets.
Can present w/or w/o an intact ventricular septum.

Pulmonary Stenosis

Question:
What syndrome is PS associated with?

Answer:
Noonans Syndrome, secondary to valve
dysplasia.

Pulmonary Stenosis
Hemodynamics

RV pressure hypertrophy RV failure.

RV pressures maybe > systemic pressure.

Post-stenotic dilation of main PA.

W/intact septum & severe stenosis R-L shunt

through PFO cyanosis.

Cyanosis is indicative of Critical PS.

Pulmonary Stenosis
Clinical Signs & Symptoms
Depends on the severity of obstruction.
Asymptomatic w/ mild PS < 30mmHg.
Mod-severe: 30-60mmHg, > 60mmHg
Prominent jugular a-wave, RV lift
Split 2nd hrt sound w/ a delay
Ejection click, followed by systolic murmur.
Heart failure & cyanosis seen in severe cases.

Pulmonary Stenosis
Treatment
Mild PS no intervention required, close follow-up.

Mod-severe require relieve of stenosis.

Balloon valvuloplasty, treatment of choice.

Surgical valvotomy is also a consideration.

Aortic Stenosis
Aortic Stenosis is an obstruction to the outflow
from the left ventricle at or near the aortic valve
that causes a systolic pressure gradient of more
than 10mmHg. Accounts for 7% of CHD.
3 Types
Valvular Most common.
Subvalvular(subaortic) involves the left outflow
tract.
Supravalvular involves the ascending aorta is the
least common.

Aortic Stenosis

Question:
Which syndrome is supravalvular stenosis
found in?

Answer:
Williams Syndrome

Aortic Stenosis
Hemodynamics

Pressure hypertrophy of the LV and LA with

obstruction to flow from the LV.

Mild AS

Moderate AS

Severe AS

50-75mmHg

Critical AS

> 75mmHg

0-25mmHG
25-50mmHg

Aortic Stenosis
Clinical Signs & Symptoms
Mild AS may present with exercise intolerance,
easy fatigabiltity, but usually asymptomatic.
Moderate AS Chest pain, dypsnea on exertion,
dizziness & syncope.
Severe AS Weak pulses, left sided heart failure,
Sudden Death.

Aortic Stenosis
Clinical Signs & Symptoms

LV thrust at the Apex.

Systolic thrill @ rt base/suprasternal notch.

Ejection click, III-IV/VI systolic murmur @

RSB/LSB w/ radiation to the carotids.

Aortic Stenosis
Treatment
Because surgery does not offer a cure it is reserved
for patients with symptoms and a resting gradient
of 60-80mmHg.
For subaortic stenosis it is reserved for gradients
of 40-50mmHg because of its rapidly progressive
nature.
Balloon valvuloplasty is the standard of treatment.

Aortic Stenosis
Treatment
Aortic insufficiency & re-stenosis is likely after
surgery and may require valve replacement.

Activity should not be restricted in Mild AS.

Mod-severe AS, no competitive sports.

Coarctation of the
Aorta
Coarctation- is narrowing of the aorta at varying
points anywhere from the transverse arch to the
iliac bifurcation.
98% of coarctations are juxtaductal
Male: Female ratio 3:1.
Accounts for 7 % of all CHD.

Coarctation of the
Aorta

Question:
What other heart anomaly is coarctation
associated with?

Answer:
Bicuspid aortic valve, seen in > 70% of cases.

Coarctation of the
Aorta

Question:
What genetic syndrome is coarctation seen in?

Answer:
Turners Syndrome

Coarctation of the
Aorta
Hemodynamics

Obstruction of left ventricular outflow

pressure hypertrophy of the LV.

Coarctation of the
Aorta
Clinical Signs & Symptoms
Classic signs of coarctation are diminution or absence of
femoral pulses.
Higher BP in the upper extremities as compared to the
lower extremities.
90% have systolic hypertension of the upper extremities.
Pulse discrepancy between rt & lt arms.

Coarctation of the
Aorta
Clinical Signs & Symptoms
With severe coarc. LE hypoperfusion, acidosis, HF and
shock.
Differential cyanosis if ductus is still open
II/VI systolic ejection murmur @ LSB.
Cardiomegaly, rib notching on X-ray.

Coarctation of the
Aorta
Treatment
With severe coarctation maintaining the ductus with
prostaglandin E is essential.
Surgical intervention, to prevent LV dysfunction.
Angioplasty is used by some centers.
Re-coarctation can occur, balloon angioplasty is the
procedure of choice.

Cyanotic CHD (R
L)

Tetralogy of Fallot (TOF)

Tricuspid atresia (TA)
Total anomalous pulmonary venous return (TAPVR)
Truncus arteriosus
Transposition of the great vessels
Hypoplastic left heart syndrome (HLH)
Pulmonary atresia (PA) / critical PS
Double outlet right ventricle (DORV)

Tetralogy of Fallot

Cyanosis, especially in the adult, is the result of a small

number of cardiac malformations well determined. Oneis
much more frequent than the others. This malformation
consists of a true anatomopathologic type represented by the
following tetralogy: (1) Stenosis of the pulmonary artery; (2)
Interventricular communication; (3) Deviation of the origin of the
aorta to the right; and (4) Hypertrophy, almost always concentric
in type, of the right ventricle. Failure of obliteration of the
foramen ovale may occasionally be added in a wholly accessory
manner.

Fallot, tienne-Louis-Arthur. Contribution to the pathologic

anatomy of morbus caeruleus (cardiac cyanosis).
Marseilles Med. 1888; 25:418-20.

Tetralogy of Fallot

Tetralogy of Fallot

Most common cyanotic lesion (7 to 10% of all

CHD)

Typical features

Cyanosis after the neonatal period

Hypoxemic spells during infancy

Right-sided aortic arch in 25% of all patients

Systlic ejection murmur at the upper LSB

Tetralogy of Fallot

Clinical findings vary depending on degree of

RVOT obstruction

Most patients are cyanotic by 4 months and it

is usually progressive

Hypoxemic spells (tet spells) are one of the

hallmarks of severe tetralogy

Tetralogy of Fallot

Tetralogy of Fallot

Tet spells most commonly start around 4 to 6

months of age and are charcterized by
1. Sudden onset or deepening of cyanosis
2. Sudden onset of dyspnea
3. Alterations of consciousness
4. Decrease in intensity of systolic murmur

Tetralogy of Fallot

Repair may be staged (modified BT shunt) or

complete