Prevalence of congenital heart defects in children with Down's syndrome in Imam Khomeini Hospital, Tehran

Background: The aim of this study was to investigate the prevalence of congenital heart defects in children with Down's syndrome in Imam Khomeini Hospital in a period of 2 years (2001-2002).
Methods: Based on their medical files and echocardiographies, 32 patients with Down's syndrome were evaluated during study.
Findings: The cytogenetic analysis in these patients (19 males and 13 females) revealed that 29 cases (90.7%) had trisomy 21, 2 cases (6.2%) had translocation and only one case (3.1%) was mosaic. Family history for heart diseases was positive in 2 patients (6.2%). The findings of echocardiography were as follow: endocardial cushion defect (ECD) in 16 cases (50%), ventricular septal defect (VSD) in 7 cases (21.8%), atrial septal defect (ASD) in 6 cases (18.7%), tetralogy of Fallot (TOF) in 2 cases (6.2%), patent ductus arteriousus (PDA) in one case (3.1%).
Conclusions: The diagnosis of congenital heart defects in children with Down's syndrome is crucial because treating them in due course results in dramatical decrease in the mortality and morbidity rates of these patients.

Keywords
Down's syndrome, Congenital Heart Defects, Cardiac anomalies, Echocardiography, Chromosomal abnormalities