ARVD A Multidisciplinary Study of Right Ventricular Dysplasia
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Fat replacing muscle in the right ventricular wall
Fat replacing muscle in the right ventricular wall 		The Multidisciplinary Study of Right Ventricular Dysplasia is a multidisciplinary, multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia. It is funded by a five year grant from the National Institutes of Health and the National Heart Lung and Blood Institute; U01 HL65594.
Dr. Frank Marcus, University of Arizona is the Principal Investigator, Dr. Hugh Calkins, Johns Hopkins University, is Co Principal Investigator. Dr. Jeffrey Towbin, Baylor College of Medicine, Texas, directs the Genetic Center for the study, and  Dr. Wojciech Zareba, University of Rochester, New York, directs the  Coordination and Data Center (CDC) for the study.

The study has completed enrollment of newly diagnosed ARVD patients and family members. 

The specific aims of this study are:

  1. To establish a North American ARVD Registry enrolling newly identified ARVD patients and their family members, based on standardized diagnostic test criteria, in a prospective longitudinal follow up study.
  2. To determine the genetic background of ARVD by identifying chromosomal loci and specific gene mutations associated with this disorder.
  3. To determine the influence of the genotype on the clinical course of patients with ARVD and explore phenotype-genotype associations that will contribute to improved diagnosis, risk stratification, and therapy.
  4. To develop quantitative methods to assess right ventricular function in order to enhance the specificity and sensitivity of ARVD diagnosis.

ARVD is a disease of desmosomal dysfunction that predominantly affects the right side of the heart and causes ventricular arrhythmias. In many patients the disease is familial. Six genes have been identified that are associated with ARVD. Plakophilin-2 (PKP2), desmoplakin (DP), desmocolin-2 (DSC-2), plakoglobin (JUP), transforming growth factor beta-3 (TGBF3), and desmoglein-2 (DSG2). ARVD may account for as many as 5% of unexpected sudden deaths under the age of 65 and 3-4% of sudden death during sports. There can be considerable difficulty in diagnosing this disease with certainty, and there is incomplete information on the pathogenesis, natural history, and treatment of the patients and affected members. The Multidisciplinary Study of Right Ventricular Dysplasia offers a substantial prospect of expanding the fund of clinical knowledge regarding ARVD.