Abernethy malformation: Single-center experience from India with review of literature

Abstract

Abernethy malformation is a rare congenital anomaly in which there is direct communication between the portal and systemic venous circulation. The clinical presentation ranges from asymptomatic with incidental detection on imaging to secondary complications of disease or related to associate anomalies. This is a retrospective analysis of data from nine patients with Abernethy malformation at a single center. This is a referral center for Pediatric Cardiology and for Hepatobiliary and Pancreatic Surgery. The patients presented to the Pulmonary Hypertension Clinic/the Hepatobiliary Surgery Clinic. Out of nine patients, four were male. Type II Abernethy malformation was present in five patients whereas three patients had type I malformation. One of the patients had communication between inferior mesenteric vein and internal iliac vein. Five out of nine patients were erroneously diagnosed as idiopathic primary pulmonary hypertension and were treated with vasodilators. One patient required living donor liver transplant. One patient was managed with surgical shunt closure whereas two patients required transcatheter shunt closure. The rest of the patients were managed conservatively. Abernethy malformation is more common than previously thought and the diagnosis is often missed. There are various management options for Abernethy malformation, which includes surgical or transcatheter shunt closure and liver transplant. Management of Abernethy malformation depends upon type, presentation, and size of shunt.

Keywords: Abernethy malformation; Congenital portosystemic shunt; Liver transplantation; Transcatheter shunt closure.