Download Congenital Diseases

CONGENITAL DISEASES
Dr. Gerrard Uy
Congenital Heart Disease



0.5-0.8% of live births
incidence is higher in stillborns (3-4%), abortuses
(10-25%), and premature infants (about 2%)
diagnosis is established by 1 wk of age in 40-50%
of patients with congenital heart disease and by 1
mo of age in 50-60%
Etiology

Result of aberrant embryonic development of a
normal structure or failure to progress beyond an
early stage of embryonic or fetal development
Pathophysiology



The anatomic and physiologic changes in the heart
and circulation due to any CHD are not static
Progress from prenatal life to adulthood
Consequences:
 Pulmonary
hypertension
 Erythrocytosis
 Pregnancy related complications
 Infective endocarditis
Relative frequency of Major
Congenital lesions







Ventricular septal defect25-30
Atrial septal defect (secundum)6-8
Patent ductus arteriosus6-8
Coarctation of aorta5-7
Tetralogy of Fallot5-7
Pulmonary valve stenosis5-7
Aortic valve stenosis4-7
Relative Frequency of Major
Congenital lesions








d-Transposition of great arteries3-5
Hypoplastic left ventricle1-3
Hypoplastic right ventricle1-3
Truncus arteriosus1-2
Total anomalous pulmonary venous return1-2
Tricuspid atresia1-2
Single ventricle1-2
Double-outlet right ventricle1-2 Others5-10
Fetal circulation
Congenital Disease


Most congenital defects are well
tolerated in the fetus because of
the parallel nature of the fetal
circulation
only after birth when the fetal
pathways (ductus arteriosus and
foramen ovale) are closed that the
full hemodynamic impact of an
anatomic abnormality becomes
apparent
Etiology




Cause is unknown
There is progress in identifying genetic basis of
many congenital heart lesions
small percentage - related to chromosomal
abnormalities, in particular, trisomy 21, 13, and 18
and Turner syndrome
2-4% -associated with known environmental or
adverse maternal conditions and teratogenic
influences, including maternal diabetes mellitus,
phenylketonuria, or systemic lupus erythematosus



diabetic mothers are five times more likely to have
congenital cardiovascular malformations
most congenital heart disease is still relegated to a
multifactorial inheritance pattern
Fetal echocardiography improves the rate of
detection
2 major groups
1.
2.
Acyanotic Congenital heart lesions
Cyanotic Congenital heart lesions
Acyanotic Congenital heart lesions

Increased volume load:





ASD (atrial septal defect)
VSD (ventricular septal defect)
AV septal defects
PDA (patent ductus arteriosus)
Increased pressure load:



valvular pulmonic stenosis
valvular aortic stenosis
coarctation of the aorta
Cyanotic Congenital heart lesions

Decreased Pulmonary Blood Flow - obstruction to
pulmonary blood flow and a pathway by which
systemic venous blood can shunt from right to left
and enter the systemic circulation




tricuspid atresia
Tetralogy of Fallot
single ventricle with pulmonary stenosis
Increased Pulmonary Blood flow



Transposition of the great vessels
Total anomalous pulmonary venous return
Truncus arteriosus
PDA (patent ductus arteriosus)
Pathophysiology




blood shunts left to right through the ductus
from the aorta to the pulmonary artery
pulmonary artery pressure may be elevated to
systemic levels during both systole and diastole
risk for the development of pulmonary vascular
disease if left unoperated
Manifestations




small patent ductus does not usually have any
symptoms
large PDA will result in heart failure
Cardiac enlargement
Classic continuous murmur (machinery-like)
Diagnosis

ECG
 Left

ventricular hypertrophy
Xray
 prominent
pulmonary artery with increased
intrapulmonary vascular markings

2D echocardiography
 left
atrial and left ventricular dimensions are increased
 Visualization of the patent ductus
Treatment



Irrespective of age, patients with PDA require
surgical or catheter closure
should not be unduly postponed after adequate
medical therapy for cardiac failure has been
instituted
thoracoscopic techniques to minimize scarring and
reduce postoperative discomfort
Atrial Septal Defect
Atrial Septal Defect


Occurs more frequently in females
3 types:
 Sinus
venosus – near the entry of the superior vena
cava into the right atrium
 Ostium primum – lie adjacent to the atrioventricular
valves, common in Down’s syndrome
 Ostium secundum – most common and involves the fossa
ovalis
Ventricular Septal Defect
Ventricular Septal Defect




Opening is usually single
Situated in the membranous portion of the septum
Spontaneous closure is more common in patients
born with a small VSD
Operative correction or transcatheter closure is
indicated when there is moderate to large left to
right shunt
Acyanotic CHD without a shunt

Valvular aortic stenosis
 More
common in males than in females
 One of the most common congenital malformations of
the heart
Coarctation of the Aorta
Acyanotic CHD without a shunt –
Coarctaion of the Aorta

Coarctation of the Aorta
May occur anywhere but is most common distal to the origin
of the left subclavian artery
 Occurs in ~7% of patients with CHD
 More common in males
 Frequent in patients with Turner’s syndrome
 10% have circle of willis aneurysms
 Manifestations:

Epistaxis, headahce, cold extremities, and claudication
 Hypertension in the upper extremities
 Absence or delayed pulsations in the femoral arteries

Cyanotic CHD – Tetralogy of Fallot
Tetralogy of Fallot

4 components:
 Malaligned
ventricular septal defect
 Obstruction to RV outflow
 Aortic override of the VSD
 RV hypertrophy


ECG shows RV hypertrophy
CXR shows boot shaped heart (coeur en sabot)
Cyanotic CHD- Transposition of the
Great Arteries
Transposition of the Great Arteries




Commonly called dextro- or D-transposition of the
great arteries
The aorta arises rightward anteriorly from the right
ventricle and the pulmonary artery from the left
ventricle
More common in males
Accounts for ~10% of cyanotic CHD
Other Cyanotic Congenital Heart
Disease


Single Ventricle
Tricuspid Atresia
 Characterized
by atresia of the tricuspid valve,
interatrial communication and hypoplasia of the right
ventricle and pulmonary artery

Ebstein Anomaly
 Characterized
by downward displacement of the
tricuspid valve into the right ventricle