Ventricular Septal Defect in Down Syndrome

Ventricular septal defect is a common cardiac anomaly in Down syndrome. To detect the prevalence of anatomic types and associated cardiac malformations we analyzed the echocardiographic and angiocardiographic findings of 73 children with ventricular septal defect and Down syndrome. We compared these results with those obtained in 303 patients with ventricular septal defect without Down syndrome. The prevalence of inlet ventricular septal defect was significantly higher in patients with Down syndrome, while muscular and subpulmonary ventricular septal defects were present only in patients without Down syndrome. The incidence of a cleft of the mitral valve was significantly higher in Down syndrome, while left-ventricular inflow and outflow obstructions were present only in patients without Down syndrome. Different patterns of ventricular septal defect and associated anomalies exist in patients with and without Down syndrome.