Principal Investigator: Dempsey L. Hughes, MD, Assistant Professor of Medicine (Gastroenterology and Hepatology), Northwestern Medicine, Northwestern Feinberg School of Medicine

A new and aggressive form of chronic liver disease has developed in young adult survivors born with congenital, single ventricle heart disease. Until the 1970s, most babies born with essentially half a heart
died in infancy until the introduction of a life-saving surgical technique called the Fontan procedure. While highly successful in correcting this cardiac defect early in life, the Fontan procedure has led to unanticipated, unfortunate outcomes – Fontan-associated Liver Disease (FALD) caused by abnormal blood flow in and out of the liver due to the heart disorder. FALD can progress from cirrhosis (irreversible
liver scarring) to liver cancer, with the only cure being a massively risky heart transplant or combined heart-liver transplant.

Accurate assessments of liver function could better guide treatment to improve the quality of life and survival of those developing FALD. Unfortunately, traditional liver MR imaging cannot be used in the presence of cardiac devices such as pacemakers, which many of these patients rely on. Thus, the best way of evaluating and tracking liver function in this at-risk population of Fontan patients is tragically unavailable due to their implanted medical devices that are saving their life. This year, a DHF award is supporting Dr. Hughes’ team in conducting a first-of-its-kind pilot on the use of endohepatology, a common upper endoscopy procedure, for liver disease staging in the FALD patient population. The researchers hope this novel use of endohepatology will greatly advance the clinical understanding of FALD by offering a vital alternative to MR imaging to monitor liver function, thereby enabling physician scientists to predict/detect FALD and develop strategies to prevent and/or treat this emerging disease in its earliest stages.