Combined Cardiohepatic Transplantation Due to Severe Heterozygous Familiar Hypercholesteremia Type II: First Case in Argentina—A Case Report

Abstract

Heterozygous familial hypercholesteremia type II is a recessive autonomic disease with a population incidence ≤1:500. It develops as a consequence of a mutation in the LDLR gene. Patients suffer extremely high LDL and VLDL cholesterol values, dying from coronary compromise at early ages. As cholesterol synthesis is an hepatic process, and as there is a lack of gene therapy, hepatic transplantation is the only therapeutic option in cases refractory to medical treatment. In this report, we have described the first case of combined cardiohepatic transplantation in Argentina, which was performed in a male patient with severe aortic stenosis and terminal ischemic cardiopathy secondary to severe familial hypercholesteremia type II.