Pattern of congenital heart diseases among children with Down syndrome attending a tertiary care medical college hospital


  • Kumar G. V. Department of Pediatrics, Sri Siddhartha Medical College, Tumkur, Karnataka, India
  • Srinivasa V. Department of Pediatrics, Basaveshwara Medical College, Chitradurga, Karnataka, India
  • Ananda kumar T. S. Department of Pediatrics, Sri Siddhartha Medical College, Tumkur, Karnataka, India



Congenital heart disease, Down syndrome, Ventricular septal defect


Background: Down syndrome (DS) is the most common chromosomal abnormality associated with learning difficulties with reported incidence between1/600 -1/1000 live births. DS (trisomy 21) is the most common chromosomal abnormality seen in clinical practice. Most children with DS have trisomy 21, due to chromosomal non-disjunction during meiosis; however, other abnormalities, such as Robertsonian translocation, mosaic, double or triple aneuploidies have been reported. The association between DS and congenital heart disease (CHD) is well established. Congenital heart disease is the most common cause of death among patients with DS and affected children have an increased risk of mortality.

Methods: The present descriptive study was conducted on children who had clinical features suggestive of Down syndrome and who were karyotypically proved as Down syndrome.

Results: In 100 cases of down syndrome 60 children were males and 40 children were females. 45 children had congenital heart diseases. The frequency of CHD in down syndrome is 45%. Ventricular septal defect was the most common CHD found 40% children with down syndrome.

Conclusions: All children with Down’s syndrome should have a cardiac evaluation at birth. Early referral and screening of all babies born with the clinical phenotype of DS should be encouraged due to the high prevalence of congenital heart defects. 


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