WASHINGTON – New research strongly indicates the need for a revision of criteria to effectively evaluate the presence of right ventricular structural, functional and electrical abnormalities. A recent study, published in the July edition of the HeartRhythm Journal , the official Journal of the Heart Rhythm Society, analyzed the clinical characteristics and diagnostic evaluation including genetic testing of a large group of patients newly identified with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). The study is the largest of its kind and included over one hundred newly diagnosed ARVC/D patients.
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic cardiomyopathy characterized by ventricular arrhythmias and structural abnormalities of the right ventricle. In ARVC/D there is a progressive replacement of right ventricular myocardium with fatty and fibrous tissue and ventricular arrhythmias of right ventricular origin. The precise prevalence of ARVC/D is relatively uncommon but may account for up to 20 percent of cases of sudden death among young individuals.
From 2001 to 2008, the North American Multidisciplinary Study led by Frank Marcus, MD, of the section of Cardiology at the University of Arizona, enrolled a total of 108 newly diagnosed patients with suspected ARVC/D in 18 centers within the United States and Canada. The patients underwent noninvasive and invasive tests using standardized protocols that were initially interpreted by the enrolling center and then adjudicated by blind analysis in six core laboratories.
“When not properly diagnosed, ARVC/D can result in sudden cardiac death or unnecessary implantation of an ICD,” stated Dr. Marcus. “It has been many years since the first clinical profile of ARVC/D was published. It was our objective to study the clinical characteristics and diagnostic evaluation of a large group of newly diagnosed ARVC/D patients.”
The results of the study reveal a significant difference in the clinical profile of newly diagnosed patients versus the profile of those patients who have been reported with advanced stages of the disease. There was also a considerable difference in the initial and final classification of the presence of ARVC/D after diagnostic tests were evaluated by the core laboratories. This study substantiates the need for multiple diagnostic tests as well as updated, more well-defined criteria for diagnosing the disease.
The results of this study have led to a second task force to modify the criteria for the diagnosis of ARVC/D.