Study of congenital heart diseases among children with Down's syndrome

Abstract

Background: Congenital heart disease (CHD) is the most common cause for morbidity and mortality among children with Down's syndrome. Methods: This hospital-based descriptive study was conducted on 50 children with Down's syndrome aged <18 years presenting to the department of paediatric medicine at our tertiary care teaching hospital at Tirupati. The prevalence, pattern of congenital heart defects and various factors which are likely to influence the expression of CHD in Down's syndrome are reported. Results: We observed CHD in 27/50 (54%) of patients studied. Ventricular septal defect (n = 40.7%) was s the most common, followed by endocardial cushion defects (n= 29.7%); atrial septal defect, patent ductus arteriosus and tetralogy of Fallot. CHD were more commonly seen in male children (58.6%); karyotyping showed translocation in 30/50 (60%) study subjects. Advanced maternal, paternal age, increased birth order and consanguinity showed a positive association with the occurrence of CHD in children with Down's syndrome. Conclusions: Our observations suggest that routine screening of children with Down's syndrome for cardiac anomalies will help in early diagnosis and early institution of specific treatment.