Congenital Cardiac Anomalies: The Most Common Anomaly in Children with Down Syndrome

Abstract

Introduction: Down syndrome (DS) is the most common genetic disorder. Congenital cardiac anomalies are common and are a major cause of mortality and morbidity in cases with DS. The aim of this study was to determine congenital cardiac anomalies in children with DS and to identify the severity of these pathologies. Methods: Genetically and clinically diagnosed DS cases with congenital cardiac anomalies, whose examination and followups were done in our pediatric cardiology outward clinic between February 1, 2018 and February 1, 2021, were retrospectively reviewed from medical records. Results: This study consisted of 131 cases with DS, including 72 (54.9%) boys and 59 (45.1%) girls. There were no anomalies in the echocardiographic findings of 54 (41.2%) of the cases. Congenital cardiac anomaly was identified in 77 (58.8%) cases. Of these cases, 10.7% had atrioventricular septal defect, 14.5% had ventricular septal defect, 9.7% had atrial septal defect, 5.3% had patent ductus arteriosus, and 2.3% had tetralogy of fallot and the rest had other pathologies. Surgical treatment was administered to 31 (23.2%) cases. Three cases had pulmonary hypertension. Two cases were administered pacemaker implantation in the postoperative period. Wolf-Parkinson-White syndrome was observed in the electrocardiography of 3 (2.3%) cases. When the cases’ other system pathologies were examined, it was observed that 30 cases (22.9%) had hypothyroid, the most common pathology. Discussion and Conclusion: Half of the patients with DS in the study group had congenital cardiac anomalies. About half of these cases required surgical or invasive intervention. This indicates that cardiac examination and follow-up of patients with DS is important and necessary.