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Congenital Heart Disease

  • Incidence 6-8/1000 live birth
  • If a previous sib affected then risk is 2-6%
  • Etiology- Multi-factorial
    Genetic predisposition
    Environmental (high altitudes -  PDA, ASD)
    Viral infection
    Metabolic (Idiopathic hypercalcemia - AS)
    Drugs (Thalidomide)

Assessment Of A Child For The Presence Of Heart Disease:


NADAS Criteria*



Sys murmur gr III* or more

IIIDiastolic murmur



Cardiac failure

Sys murmur < gr

abn S2

abn ECG

abn CXR

abn BP


Presence of one major or two minor CRITERIA indicates heart disease


Feature indicative of the presence of congenital cardiac lesion

  • Presence of heart murmur with in first year life
  • Murmur produced by congenital lesion tends to be parasternal
  • Presence of cyanosis
  • Presence of extra cardiac congenital anomalies like skeletal deformities.

Extracardiac anomalies associated with cardiac lesions

Extracardiac anomalies

Likely congenital cardiac lesion

Bony abnormalities; absence of radius or ulna

Syndactyly, polydactyly

Trisomy 21 (Down syndrome)



Turner syndrome

Ellis-van Creveld syndrome

Rubella syndrome

Moon facies and hypertelorism

Holt Gram syndrome

Marfan syndrome

Hurler syndrome

Trisomy 13-15

Trisomy 17-18

Ventricular septal defect

Ventricular septal defect

Endocardial cushion typeQ, ventricular septal defect

Atrial septal defect

Coarctation of aorta, pulmonic and aortic stenosis

Atrial septal defect, single atrium

Patent ductus arteriosus, pulmonic stenosis

Pulmonic stenosis

Familial atrial septal defectQ

Aortic or pulmonary artery dilatation

Mitral or aortic regurgitation

Ventricular septal defect

Ventricular septal defect, patent ductus arteriosus



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