Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy is an inherited heart muscle disease characterized by ventricular arrhythmias, an increased risk of sudden death, and predominant right ventricular dysfunction with fibro-fatty replacement of cardiac myocytes.

In 2003, we established the North American ARVC Registry, which enrolled over 1000 probands and 170 family members. This project was funded by three NIH grants to foster a collaboration among Dr. Frank Marcus from University of Arizona as Clinical PI, Dr Jeffrey Towbin from University of Cincinnati (at that time) as PI of Genetic PI and Dr. Wojciech Zareba from University of Rochester as PI of Data Coordination Center and ECG Core Lab.  The project resulted in establishing new diagnostic criteria, so called 2010 ARVC Task Force Criteria (Circulation), which serve physician worldwide to diagnose patients with this rare disorder.

During years 2012-2019, we have been continuing NIH-funded investigations of ARVC patients by enrolling 190 new subjects and focusing on genetic etiology of the disease uncovering 39 genes associated with disease. Analyses of these new data are currently ongoing.      

In 2018, we received NIH grant with Dr. Wojciech Zareba as PI, and started working on the first randomized pilot trial testing flecainide, antiarrhythmic medication in high-risk ARVC patients. First patient was enrolled at the University of Rochester Medical Center by Dr. Spencer Rosero.