Living Donor Liver Transplantation for Symptomatic Liver Involvement in Infant With Hereditary Hemorrhagic Telangiectasia.

Abstract

Aim: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that can cause vascular malformations in multiple organs, including the liver. Although liver involvement typically remains asymptomatic until adulthood, severe cases can progress to high-output cardiac failure (HOCF). Although liver transplantation (LT) is a well-established curative option for adult patients with HHT, pediatric data are limited.

Methods: We present a case of a 3-month-old boy with HOCF due to hepatic arteriovenous malformations (AVMs) caused by HHT. Prenatal imaging revealed hepatic AVMs and a ventricular septal defect (VSD), necessitating a semi-emergent cesarean delivery due to rapid cardiac enlargement. To reduce blood flow to the AVMs, hepatic artery ligation and transcatheter embolization were performed within the first week of life. At 3 weeks, progressive pulmonary blood flow led to pulmonary artery banding to address the tricuspid regurgitant gradient exceeding 50 mmHg. Given the life-threatening nature of the high-output state due to the hepatic AVMs, LT was deemed essential and was strategically performed prior to VSD closure. The patient successfully transitioned off continuous catecholamine support by postoperative Day 3 and has remained stable for 2 years without recurrence of heart failure.

Results and conclusion: This is the first report demonstrating the feasibility and effectiveness of LT in pediatric HHT patients with severe cardiac complications, including right-to-left shunting. The case highlights the natural history of HHT in childhood and provides guidance on optimal treatment strategies, particularly a decision to perform LT first while leaving right-to-left shunting and operative procedures to prevent perioperative complications.