This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Marcus, F. Articles by Towbin, J. A. Search for Related Content PubMed PubMed Citation Articles by Marcus, F. Articles by Towbin, J. A. Related Collections Genetics of cardiovascular disease

(Circulation. 2006;114:1794-1795.)
© 2006 American Heart Association, Inc.

Editorial

The Mystery of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

From Observation to Mechanistic Explanation

Frank Marcus, MD; Jeffrey A. Towbin, MD

From the Sarver Heart Center (F.M.), University of Arizona, Tucson, Ariz, and Department of Pediatric Cardiology (J.A.T.), Baylor College of Medicine and Texas Children’s Hospital, Houston, Tex.

Correspondence to Frank Marcus, MD, Sarver Heart Center, University Medical Center, PO Box 245037, 1501 N Campbell Ave, Tucson, AZ 85724. E-mail fmarcus@u.arizona.edu

Key Words: Editorials • exercise • arrhythmia • cardiomyopathy • genetics • proteins

An extract of the first 250 words of the full text is provided, because this article has no abstract.

Only 24 years have elapsed from the time that the clinical profile of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) was first described.¹ Since then, this entity has been found to have a prevalence of about 1 in 5000 persons² and is well recognized in the United States, Europe, and Asia. The usual clinical presentation of ARVD/C is that of palpitations, nonsustained ventricular tachycardia, and sustained ventricular arrhythmias. Uncommonly, sudden cardiac death may be the first manifestation of the disease. Most patients with this condition experience the onset of these symptoms between the ages of 20 and 40 years, and the disease shows a predisposition to occur in men. A familial incidence was noted in the early description of the disease.

Article p 1799

Certain observations about the disease were intriguing but puzzling. Why did there appear to be a striking incidence of athletic individuals affected by this disease?³ Why is there a predilection for the disease to primarily affect certain locations of the right ventricle: the right ventricular outflow tract, the apex, and the subtricuspid area of the right ventricle, the so-called "triangle of dysplasia"?¹ Why is there a latent period for the development of the clinical manifestations of ARVD/C, because it is seldom evident in childhood but is expressed in late puberty, adolescence, or early adulthood?

Over the past 10 years, genetic studies have begun to unravel the mysteries underlying ARVD/C and to provide answers to these puzzling observations. In 2000, Bowles and Towbin⁴ predicted that there would be a . . . [Full Text of this Article]

This article has been cited by other articles:

				M. D. McCauley and X. H. T. Wehrens Animal models of arrhythmogenic cardiomyopathy Dis. Model. Mech., November 1, 2009; 2(11-12): 563 - 570. [Abstract] [Full Text] [PDF]

				A. D. den Haan, B. Y. Tan, M. N. Zikusoka, L. I. Llado, R. Jain, A. Daly, C. Tichnell, C. James, N. Amat-Alarcon, T. Abraham, et al. Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Circ Cardiovasc Genet, October 1, 2009; 2(5): 428 - 435. [Abstract] [Full Text] [PDF]

				K. A. Michael and J. M. Morgan Not letting the left side know what the right is doing! Eur. J. Cardiothorac. Surg., April 1, 2008; 33(4): 748 - 750. [Abstract] [Full Text] [PDF]