Congenital Heart Defect

Andini Afliani

Congenital Heart Defect

Incidence 8/1000 in a born alive baby The most common case (30% of all congenital disease) and the biggest death cause in neonates In United States defect about 25.000-30.000 one

baby born with one type of congenital heart

Risk Factor
Fetus
Delayed fetal development Fetal heart dysrhythmia Kariotype abnormality (Trisomy 13-18, Turner syndrome)

Mother

Mother disease : Diabetes, Hypertension, Rubella Drugs : Amphetamine, Anticonvulsant, Lithium, Sex Hormones

Family

Congenital heart disease Genetic syndrome

Cardiovascular Embriology

Formation

of

cardiovascular

system

and

cardiogenic field
Formed in the mid-third week, when embryo unable to fulfill the nutritional needs only through diffusion

Formation of blood cells and blood vessels through vesiculogenesis then fused to form endothelial layer which forming a horseshoe

region
cavity

known

as

cardiogenic

field,

while

intraembryonic cavity develop into pericardial

 Heart

tube formation (tubing)

layer which forms the

Heart tube contains of endocardium and myocardium muscular wall and epicardium or visceral pericardium covers the outside of the tube

Heart tube is formed when the embryo is 4 weeks with a length about 3mm and heart

began to throb

 Cardiac

loop formation (looping)

Formed through looping process between atrial and ventricular inlet components and between inlent components and outlet

ventricular

This loop may caused by cell shape changes then causing cardiac loop

formation (cardic loop)

This loop finished at day 28

Septation

In a second month, atrial segment, ventricular

and truncus arteriosus is separated

Truncus

arteriosus

septation

formed

and

endocardial bulging works started from outlet

ventricle. At the first time begin as a spiral then

at fusion become a straight septum. The septum then become a separator of aorta and

pulmonary artery which its not only comes from

endocardium bulging but also from truncus wall.

Migration

Ventricle inlet segment is displaced (migration), so

that right atrioventricular orifce connected with

the right ventricle trabecular. At the same time left and right atrioventricular orifice inlet septum is

formed, whereas left ventricle has only an inlet.

Then aortic outflow tract and pulmonary outflow tract fuse with 6th arcus aortae which has function as ductus arteriousus which connecting

pulmonary artery with descending aorta.

Heart Congenital Defect

according to AHA
Cyanotic Defects Tetralogy of Fallot Transposition of The Great Vessels (TGV) Septal Defects Atrial Septal Defect (ASD) Ventricular Septal Defect (VSD) Patent Ductus Arteriosus (PDA) Obstructive Defects Aortic Stenosis (AS) Pulmonary Stenosis (PS) Coarctation of The Aorta (CA)

Atrial Septal Defects (ASD)

Defect at septum which separating left and

right atrial. Incidence about 10% of all congenital heart defects.

Most

congenital heart defects caused of

the

multifactorial (90%) where the rest of

causes are genetic/chromosome factors (7%) and environment factors which contains of infection factor, alcohol, and drugs.

Patophysiology :

Formed second hole of ostium secundum in the

middle of primary septum. Septum secundum

then proliferated forming a foramen ovale. When the fetus born , vascular resistance decrease and systemic artery pressure increase, left atrial pressure increase higher than right atrial pressure then causing foramen ovale function closed. This abnormality may cause ASD which able a free connection between left atrial and right atrial.

Clinical Features :

Most case is asymptomatic. If the shunt is large may cause short of breath and pulmonary infection. Development of a child usually normal, but if the shunt is large low body weight could happened

Diagnosis:

Using 2D fetal echocardiography helps to examine

position and size of defect. Where certain shunt shows widening of pulmonary artery, right atrial and ventricle, whereas left atrial and ventricle within normal limit. In M-

mode fetal echocardiography shows widening of right

ventricle with paradoxical septal motion

 Ecocardiography

of ASD

Ventricular Septal Defects (VSD)

The most common case with incidence 30-40% from all of the congenital heart disease. Can be the single defect and also can be accompanied by other heart defect

Etiology :

Most caused of chromosome/genetic abnormality,

diabetes, alcohol, and drugs like trimetadion

 Patophyisiology

:
formed forming in a 4th-8th fusion of of

Ventricle gestation

septum which

intraventricle muscles which developed upward of heart apex with thin membrane separator which developed downward of endocardium cushioning

 Clinical

Features :

Highly varied depend on the size of the defect and the degree of the left to right shunt. A small VSD may asymptomatic, and closed itself at baby or child. But a large defect causing severe left to right shunt which exacerbated of pulmonary

hypertension and congestive heart failure.

 Diagnosis

:
defect sometimes difficult to echocardiography, but

In

small

detected with 2D

Doppler and Colored Doppler could identify systolic flow location from left ventricle to right ventricle. In a large defect, echocardiogram may show enlargement of 4 heart chambers

and widening of pulmonary artery

 VSD

in a fetus with breech presentation

 Prognosis

:
defect is closed spontaneously commonly theres no

Most small 2

especially at 1year old, and rarely closed after years old, and possibility to closed after 6 years old

Patent Ductus Arteriosus (PDA)

An

abnormality where ductus arteriosus still

open after a baby born (7% of congenital heart defect)

Etiology

Common caused of genetic/chromosome abnormality, Rubella infection and drugs (Hidantoin)

 Patophysiology

As soon as a baby born, ductus arteriosus will be constriction as a response of a high level of oxygen in artery, and decreased level of irreversible few months Prostaglandin closure E1. Complete then will be occurred in a

after a baby born

formed arteriosum ligament.

Cllinical Features :

PDA cause high pressure left to right

shunt,

audible as

intermittent rough murmur (machine murmur). A small PDA

is asymptomatic. In a large defect, symptom will be appear

in children and adult. Pulmonary hypertension characterized by cyanosis and congestive heart failure. High pressure shunt easier makes someone got an infective endocarditis.

Diagnosis

In 2 dimension Ecocardiography, a small PDA will not show a heart chamber enlargement or pulmonary artery but with Doppler and colored Doppler examination continue abnormal flow clearly visible either in ductus or in pulmonary artery

 PDA

in fetus with head presentation

 Prognosis

A small PDA may closed spontaneously. A medium and large PDA has a good prognosis if managed with a good medical

therapy and surgical intervention. PDA with

a large shunt will have a serious complication like pulmonary hypertension if

it doesnt get a surgical intervention.

Tetralogy of Fallot (TF)

About

10% of all congenital heart defect

common cause of congenital

is

cyanotic heart defects

Etiology

:
factors like drugs (talidomid,

Exogen

isotretinoin, trimetadion, and alcohol) has a big role in causing TF

 Patophysiology

The division of the pulmonary trunk into truncus arteriosus and abnormal aortic root is thought to be an abnormal primary

process in the onset of this disorder,

although many details on its pathogenesis is still not known for sure.

Clinical Features :

A hemodynamic consequence as a decrease blood flow to lungs, and blood flow to aorta is increase. Severe stenosis frequent causes significant cyanosis in early life.

Diagnosis :

2D Ecocardiography shows over-riding of the aorta, right ventricle enlargement, septal thickness. Aorta looks pulmonary artery is small. ventricular while large

 TF

in a fetus with head presentation

Transposition of The Great Vessels (TGV)

Common

cause of cyanotic congenital heart

defect after TF, about 5%

Etiology

Most caused of diabetes and drugs (talidomi and isotretinoin)

Patophysiology : Changes in the aortic position and pulmonary artery

because of the separation of the aortic trunk causes

abnormal exit from the right ventricle and pulmonary artery from left ventricle . As a result, the aorta receives systemic vena veins blood from vena cava,

right atrium, right ventricle, and the blood passed

into the systemic circulation. While the blood from the pulmonary veins drained into the left atrium, left ventricle, and forwarded to the pulmonary artery to the lungs, and so on.

Clinical Features :

The main clinical feature is cyanosis. Symptoms appear in the first week, and cyanosis will be progressive when

the ductus arteriosus closes. In infants arise shortness of

breath, pneumonia, and delayed growth

Diagnosis :

In 2D fetal echocardiography and Doppler shows a large veins from the left ventricle, curved down and forked (pulmonary artery). It appears the two vessels are mutually transversely truncated where the aorta and pulmonary artery are usually located anterior to the pulmonary artery

 TGV

in a fetus with head presentation

 Prognosis

Without surgical intervention 95% patients die in a first week. Some study show most death occurs in a first 3 month caused of congenital heart congestive. Pulmonary hypertension occur if large VSD found. Early corrective surgical inntervention gives a better survival rate.