A research project headed by Frank I. Marcus, MD, founding head of cardiology at the University of Arizona College of Medicine, has been awarded $7.4 million to study an unusual heart disease that accounts for 3 to 4 percent of deaths in young athletes.
Called arrhythmogenic right ventricular dysplasia (ARVD), the condition mostly affects people between the ages of 20 and 40, although it also is responsible for up to 5 percent of sudden unexplained deaths in the general population under the age of 65. In ARVD, part of the right heart muscle degenerates and is replaced by fatty tissue; its first symptoms are palpitations, rapid abnormal heart rhythm or sudden death.

"The disease can have a devastating impact on a family, since it may affect young, otherwise healthy, athletic people," Dr. Marcus says. "Recently, two lovely 19-year-old twin sisters were found to have ARVD. One just underwent a successful heart transplant by Dr. Jack Copeland and his team. The other is awaiting transplant."

Dr. Marcus is the principal investigator of the study, overseeing a cluster of research groups sharing the grant, which was awarded by the National Institutes of Health's National Heart, Lung and Blood Institute. The five-year, multi-center, multi-national study aims to improve the methods of diagnosing ARVD, to determine the abnormal gene or genes responsible for the disease and to learn how best to treat the condition.

Dr. Marcus' research team at the UA includes Julia Indik, MD, Peter Ott, MD, Charles Lui, MD, Theron Ovitt, MD, William J. Dallas, PhD, Duane Sherrill, PhD, and Kathy Gear, RN.

The study's co-investigators are: Wojciech Zareba, MD, and Arthur Moss, MD, both of Rochester, NY; and Jeffrey Towbin, MD, of Houston.

In order to accumulate enough patients to study the condition in detail, nine centers geographically distributed throughout the United States and one center in Canada will enroll patients in a national registry. The patients will be evaluated systematically to confirm they have the disease and will be followed for at least five years.

As ARVD is often familial, the immediate family members will be screened for ARVD. If a number of family members have ARVD, blood samples will be sent to the genetic center in Houston, where Dr. Towbin and his associates will attempt to identify the genetic abnormalities.

"Knowledge of the underlying cause of this condition may help scientists to understand other diseases of the heart muscle called cardiomyopathies," Dr. Marcus says.

In addition, there will be collaboration with physicians in Italy and Germany and a recently established European Registry for ARVD.