Life-saving stepwise management of pulmonary hypertension in an infant with Down syndrome presenting with a large patent ductus arteriosus and giant hepatic arteriovenous malformation.

Abstract

We report a rare case of a 3-month-old male infant with Down syndrome, severe pulmonary arterial hypertension (a large patent ductus arteriosus, an atrial septal defect, and a giant hepatic arteriovenous malformation). Initial treatment involved hepatic arteriovenous malformation embolisation using 17 Azur® CX Peripheral Coils, resulting in clinical improvement. However, persistent pulmonary arterial hypertension led to patent ductus arteriosus closure using an 8-mm Lifetech Cera™ vascular plug after a successful balloon occlusion test. Post-intervention, the patient showed symptomatic relief, reduced right ventricular overload, and atrial septal defect shunting shifted to left to right. This is the first reported paediatric case combining these features successfully managed through a multidisciplinary and stepwise treatment approach, eliminating the need for liver transplantation.