Congenital cardiac malformations in children with down syndrome: An echocardiographic based study.

Abstract

Objective: To find out the prevalence and pattern of congenital heart diseases (CHDs) in children with Down syndrome (DS). Study Design: Cross-sectional study. Setting: Department of Pediatrics, Rai Medical College Teaching Hospital, Sargodha, Pakistan. Period: January 2021 to December 2022. Material & Methods: A total of 165 children of either gender, aged 1 month to 12 years with DS diagnosed with the help of typical clinical features and confirmation by cytogenetic studies were analyzed. Children diagnosed with DS were further evaluated for cardiac assessment as per 2-D echocardiographic and Doppler examinations. The prevalence of CHDs was noted among children with DS. Results: In a total of 165 children with DS, 86 (52.1%) were male. The mean age was noted to be 1.8±1.2 years while 106 (64.2%) children were aged below 1 year. The existence of CHDs was found to be in 56 (33.9%). Among 56 children with CHDs, ventricular septal defect (VSD), atrial septal defect (ASD) and tetralogy of fallot (TOF) were the commonest forms of CHDs noted in 16 (28.6%), 12 (21.4%) and 9 (16.1%) children respectively. Conclusion: High prevalence of CHDs in children with Down syndrome was noted. The VSD and ASD were the most common forms of CHDs among children with Down syndrome.