Abstract
Familial hypercholesterolemia (FH) is a dominant inherited disease of low-density lipoprotein (LDL) metabolism caused by mutations of LDL receptors mainly located in the liver. This metabolic disorder is responsible for severe cardiovascular disease, from coronary lesions to chronic heart failure (CHF). Liver transplantation in homozygous FH provides the missing functional LDL receptors and thus partially restores LDL receptor activity to more than 50% of normal. Combined heart and liver transplantation was successfully performed in a homozygous FH patient with end-stage heart failure. Herein we report our experience with a heterozygous male patient with terminal CHF, and review data from the literature on short- and long-term results of such procedures.