Clinical Spectrum and Frequency of Congenital Heart Diseases in Children with Down Syndrome at the Faisalabad Institute of Cardiology

Abstract

Background: Children with Down’s syndrome are highly predisposed to congenital heart defects (CHDs), which significantly contribute to morbidity and mortality. Early identification of these defects is crucial for effective management and improved survival outcomes. Objective: This study aimed to determine the frequency and pattern of various congenital heart defects among children with Down’s syndrome presenting to a tertiary cardiology center. Methods: A descriptive study was conducted in the Department of Cardiology at the Faisalabad Institute of Cardiology, Faisalabad. Fifty eight phenotypically confirmed children with Down’s syndrome, aged from birth to 13 years, were included using a non-probability convenient sampling technique. After thorough clinical evaluation and history taking, all participants underwent transthoracic two dimensional echocardiography, and findings were recorded on a structured preforma. Data were analyzed using SPSS version 25, and results were expressed as frequencies and percentages. Results: Congenital heart defects were detected in 29 out of 58 patients (50%), including 16 males and 13 females (male-to-female ratio 1.2:1). Acyanotic lesions were more prevalent (79.3%) than cyanotic lesions (20.7%). The most common isolated defects were ventricular septal defect, patent ductus arteriosus, and complete atrioventricular septal defect (each 20.7%), followed by atrial septal defect (3.4%) and pulmonary atresia (3.4%). Conclusion: Half of the children with Down’s syndrome in this study had congenital heart defects, most frequently acyanotic lesions such as ventricular septal defect, patent ductus arteriosus, and complete atrioventricular septal defect. Routine echocardiographic screening is essential for early detection and timely intervention.

Keywords: Acyanotic heart disease, Atrioventricular septal defect, Congenital heart defects, Down syndrome, Echocardiography, Patent ductus arteriosus, Ventricular septal defect.