Atrioventricular Septal Defect with Pulmonary Hypertension After the First Year of Life
The authors present a clinical case of a 1-year-and-10-month-old female patient with Down syndrome admitted at the emergency department with fatigue on efforts and cyanosis since birth and also suffering from repeated respiratory infections. Subsequent clinical work-up led to the final diagnosis of Rastelli type A atrioventricular septal defect (AVSD). Pathological alterations, as well as important tricuspid valve insufficiency, severe pulmonary hypertension, and persistent ductus arteriosus (PDA), were observed. The authors discuss the (development) of this disease in patients with Down syndrome.