Fontan-Associated Liver Disease: A Review

Area of Science:

• Cardiology
• Hepatology
• Pediatric Surgery

Background:

• Fontan-associated liver disease (FALD) is a progressive complication in adults following the Fontan procedure for congenital heart disease.
• The growing Fontan population faces significant morbidity and mortality due to FALD, encompassing fibrosis, cirrhosis, and hepatocellular carcinoma.
• FALD pathophysiology involves complex hemodynamic and inflammatory factors unique to single-ventricle physiology.

Purpose of the Study:

• To review the current literature on Fontan-associated liver disease (FALD).
• To highlight challenges in diagnosing and managing FALD, including unreliable noninvasive tests and inconsistent biopsy results.
• To discuss current treatment controversies and identify knowledge gaps for future research.

Main Methods:

• Comprehensive literature review of epidemiology, pathophysiology, diagnosis, and management of FALD.
• Analysis of challenges in current diagnostic modalities, including noninvasive markers and invasive sampling.
• Examination of treatment options for end-stage FALD, including transplantation strategies.

Main Results:

• FALD presents a spectrum of liver abnormalities, from fibrosis to cancer, posing diagnostic difficulties due to congestion and patchy fibrosis.
• Noninvasive tests for liver stiffness are unreliable in FALD, and tissue sampling is inconsistent.
• Liver and heart transplantation are treatment options, with combined heart-liver transplantation increasingly favored in the US.

Conclusions:

• FALD is a major concern for the growing adult Fontan population, requiring improved diagnostic and surveillance protocols.
• Current diagnostic methods for FALD are inadequate, necessitating the development of validated approaches.
• Further research is crucial to address knowledge gaps in FALD management and optimize patient outcomes.