DOWN’S SYNDROME;

Objective: To evaluate the various types of congenital heart defects and to determine their frequency in children withDown’s syndrome. Study Design: Descriptive study. Place and duration of study: Department of Pediatrics, Independent UniversityHospital Faisal Abad Pakistan, from January 2010 to December 2012. Methodology: 93 children between the ages of day 1 to 12 years,diagnosed clinically as Down’s syndrome based on its characteristic phenotypic appearance, were included in the study. A detailedhistory, physical examination and evaluation of cardiovascular status (including Chest x-ray, Electrocardiogram and Echocardiography)were performed in each Down’s syndrome case. Variables of interest included age, sex, maternal age at birth and type and frequency ofcongenital heart disease. Results: Congenital heart disease was present in 48 (51.62%) children out of 93 children with Down’ssyndrome. Congenital cardiac defects in order of predominant type and their frequency included Ventricular septal defect (29, 60.4%),Atrioventricular septal defect (14, 29.1%), Atrial septal defect (2, 4.1%), Patent ductus arteriosis (2, 4.1%) and Tetralogy of Fallots (1,2%). 68 (73.2%) Down’s syndrome children (n=93) presented during their first year of life with mean age of 7±4 months. Malepredominance was observed in both with and without congenital heart disease Down’s syndrome children (male: female 1.7:1 and 2.5:1respectively). Mean maternal age at birth was 27±2 years. Conclusions: Congenital heart disease (CHD) is frequently associated withDown’s syndrome (DS). Ventricular septal defects and atrioventricular septal defects are the most common forms of CHDs in DS childrenof our region. Their earlier presentation (in infancy) and significant contribution to the morbidity and mortality of DS children warrantsearly diagnosis of DS and mandatory screening of all DS children for associated CHDs.