The prevalence and distribution of congenital heart disease in neonates with Down syndrome in Southeastern Anatolian Region of Turkey Türkiye

Aim: The prevalence of congenital heart disease (CHD) was reported as 40-60% in patients with Down syndrome (DS). As the prevalence and distribution of congenital heart defects in DS varies according to population and ethnicity, we aimed to investigate CHD in patients with DS in Southeastern Anatolian Region. Materials and Methods: DS cases who were followed-up in neonatal intensive care unit between 2011 and 2013 were included. An experienced pediatric cardiologist examined all cases by transthoracic echocardiography using GE Vivid 3 device. Hospital records of all patients were reviewed. Results: A total of 87 neonates (53 males) were evaluated. The mean age of the presentation was 8.6±5.2 days (range 0-30 days). The number of patients with CHD was 57 (65.5%); one defect in 37 cases (64.9%), two defects in 16 cases (28%), and three defects together in 4 cases (7%). The distribution of CHD in patients revealed atrioventricular septal defect (AVSD) in 23 patients (29.8%), ventricular septal defect (VSD) in 22 patients (28.5%), secundum atrial septal defect in 18 patients (23.3%), patent ductus arteriosus in 11 patients (14.2%), and tetralogy of Fallot in 1, univentricular heart in 1, and intermittent aortic arc in 1 patient. Conclusion: To the best of our knowledge, this is the first study performed only on neonates with DS. The most common defect was AVSD although incidence of VSD was higher than expected. Performing CHD screening during neonatal period is more reliable in patients with DS. The variation in the prevalence and distribution of CHD indicates regional and ethnic variability among patients with DS.