Mapping Congenital Heart Disease in Infants with Down Syndromein a Tertiary Care Hospital

Abstract

Background & objective: Cardiovascular anomalies are a primary contributor to morbidity and mortality in infants with Down Syndrome (DS). Despite the known association, the specific underlying etiologies of these defects remain obscure. International guidelines mandate early screening for congenital heart disease (CHD) in DS patients, as timely diagnosis and intervention significantly improve health outcomes and life expectancy. This study aimed to identify the prevalence and specific patterns of CHD among infants with DS in a specialized clinical setting. Methods: This cross-sectional study was conducted at the Child Development Center (CDC) of BIRDEM General Hospital 2 and the Pediatric Cardiology Echocardiography Lab of Ibrahim Cardiac Hospital and Research Institute (ICHRI) from July 2021 to June 2022. A total of 55 children with Down Syndrome were primarily screened for congenital heart diseases (CHDs). After clinical and echocardiographic evaluation, infants with DS who had CHD (n = 31) were advised for karyotyping. Sociodemographic, clinical and echocardiographic data were collected and analyzed. Results: Congenital heart disease was identified in 31(56.4%) of the 55 infants. Of these, 19(61.3%) presented with a single cardiac abnormality, while 12(38.7%) exhibited multiple anomalies. Atrial Septal Defect (ASD) was the most frequent lesion (61.3%), with 12 infants (38.7%) having isolated ASD. Maternal age was relatively low, with >70% of mothers being under 35 years of age. Karyotyping was confirmed in 26 cases, of which 25(96.1%) were Trisomy 21 (47, XX/XY+21) and one (3.9%) was a chromosomal translocation (46, XX, t13/21). Conclusion: CHD is highly prevalent among infants with DS in Bangladesh. Early echocardiographic screening and prompt referral to specialized cardiac centers are essential to prevent irreversible complications, such as pulmonary hypertension, and to optimize medical and surgical outcomes.

Ibrahim Card Med J 2025; 15 (2): 29-32