Frequency of Congenital Heart Defects in Indian Children with Down Syndrome

Congenital Heart Diseases (CHD) are commonly associated with Down Syndrome (DS) infants. Our study aimed at determining the occurrence and pattern of CHD in association with DS among patients in Indian subjects. A total of 60 patients with clinical features suggestive of DS were recruited. Echocardiography, standard karyotype and QF-PCR (Quantitative – Flourescent PCR) studies were performed in all patients in order to confirm DS. CHDs were detected in the 50% of children with DS. The commonest type of CHD reported in Indian subjects was atrioventricular septal defect (50%). The second most type of CHD present was ventricular septal defect (26.6%). Other type of CHD included in our study was atrial septal defect, tetralogy of fallot and patent ductus arteriosus with the frequency of 10 %, 6.6 % and 6.6% respectively. Our findings showed that CHDs are common in Indian DS children. These results suggest that a routine echocardiography should be mandatory in DS patients.