Results from the North American Multidisciplinary Study, published in the HeartRhythm Journal, the official journal of the Heart Rhythm Society, provide new information about the diagnostic evaluation of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D).1 In this interview, we learn more about ARVC/D from Principal Investigator Dr. Frank Marcus at the University of Arizona.

What was the purpose of the Multidisciplinary Study of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia?

The major purpose was to study the clinical characteristics and diagnostic evaluation of a large group of patients with newly identified arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). I would like to emphasize the term ‘newly diagnosed’, because the literature is besieged with information from patients with severe disease and their clinical findings may be quite different from patients who are newly diagnosed with ARVC/D and who may not have major enlargement or abnormalities of the right ventricle. We were also interested in obtaining information about how accurate and efficient the various tests are for the diagnosis of the disease as well as studying the genetics of ARVC/D.

How many patients were enrolled, and what were the start and completion dates?

There were a total of 108 newly diagnosed patients with suspected ARVC/D. They were enrolled in the study from 2001 to 2008.

Tell us about the proband population makeup. In addition, how many had previously been competitive athletes?

The age at enrollment was 39 ± 14 years. Thirty-four percent of these patients participated in competitive or professional sports prior to diagnosis, and of these, 68 percent were male. There also was an additional 36 percent of patients who were active in recreational sports. Thus, a very high percentage of patients were very active in competitive or recreational sports.

Tell us about arrhythmogenic right ventricular cardiomyopathy/ dysplasia. Who does it affect? How many patients are affected in the United States?

In the literature, the ratio of men to women is quite variable, with as high a male/female ratio of 3:1. In our study 58 percent of the patients were male, so it was an almost equal male/female ratio. We do not yet know how many patients are affected by ARVC/D in the US, but in some parts of the world, the disease can account for up to 20 percent of sudden cardiac deaths (SCDs) in individuals below the age of 35.

What advancements have been made in ARVC/D over the last few years? Tell us about the genetic findings.