NIH Awards Dr. Frank Marcus $1.4 Million to Study Genetics, Mechanisms and Phenotypes of Arrhythmogenic Cardiomyopathies

09/09/13

Frank I. Marcus, MD, professor emeritus in the Division of Cardiology at the University of Arizona College of Medicine – Tucson and researcher with the UA Sarver Heart Center, has received a $1.4 million RO1 National Institutes of Health (NIH) grant number HL116906 for a multicenter five-year study, “Mechanisms, Genotypes and Clinical Phenotypes of Arrhythmogenic Cardiomyopathy.”

Dr. Marcus is principal investigator for the study, the goal of which is to provide consistent diagnostic analyses of patients and family members with right ventricular and left ventricular cardiomyopathy (ALVC). The study also seeks a better understanding of the genetics, molecular basis and clinical characteristics of these patients and progression of the disease over time. Human subjects enrolled in the study will have a family history or will meet diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC).

A significant cause of sudden cardiac death in people under age 35, ARVC affects about one in 1,000 people. It primarily affects the heart muscle in the right ventricle, causing potentially fatal ventricular arrhythmias.

Dr. Marcus is directing a diagnostic core in collaboration with Julia H. Indik, MD, PhD, who will be in charge of the diagnostic core lab for this study to evaluate right ventricular angiograms in enrolled patients to be certain they have ARVC.  Dr. Indik is a UA associate professor of medicine and recipient of the Flinn Foundation and American Heart Association Endowed Chair in Electrophysiology at the UA Sarver Heart Center.

In addition, researchers at other institutions will submit for review diagnostic tests that include electrocardiograms, echocardiograms, cardiac magnetic resonance imaging (MRI), Holter monitoring, signal-averaged ECG, data from implantable cardioverter defibrillators (ICDs) and cardiac pathology. Participating centers include Massachusetts General Hospital, New England Medical Center, Beth Israel Deaconess Medical Center in Boston, University of Rochester in New York, Duke University in North Carolina, Loyola Medical Center in Chicago, Los Angeles Cardiology Associates and the National Institutes of Health Clinical Center in Bethesda, MD.

Dr. Marcus, a world authority on ARVC, was the recipient of the European Cardiac Arrhythmia Society’s Outstanding Achievement Award in 2011. That same year, he received the Pioneer in Cardiac Pacing and Electrophysiology Award from the Heart Rhythm Society.