CONGENITAL DISEASES
Dr. Meg-angela Christi Amores
Congenital Heart Disease
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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%
Relative frequency of Major
Congenital lesions
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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
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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
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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
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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
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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
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Increased volume load:
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ASD (atrial septal defect)
VSD (ventricular septal defect)
AV septal defects
PDA (patent ductus arteriosus)
Increased pressure load:
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valvular pulmonic stenosis
valvular aortic stenosis
coarctation of the aorta
Cyanotic Congenital heart lesions
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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
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tricuspid atresia
Tetralogy of Fallot
single ventricle with pulmonary stenosis
Increased Pulmonary Blood flow
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Transposition of the great vessels
Total anomalous pulmonary venous return
Truncus arteriosus
PDA (patent ductus arteriosus)
Pathophysiology
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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
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small patent ductus does not usually have any
symptoms
large PDA will result in heart failure
Cardiac enlargement
Classic continuous murmur (machinery-like)
Diagnosis
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ECG
 Left
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ventricular hypertrophy
Xray
 prominent
pulmonary artery with increased
intrapulmonary vascular markings
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2D echocardiography
 left
atrial and left ventricular dimensions are increased
 Visualization of the patent ductus
Treatment
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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
Other congenital lesions - acyanotic
Other congenital lesions - acyanotic
Other congenital lesions - acyanotic
Other congenital lesions - cyanotic
Other congenital lesions - cyanotic