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(Circulation. 2003;107:2975.)
© 2003 American Heart Association, Inc.

Special Review

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)

A Multidisciplinary Study: Design and Protocol

Frank Marcus, MD; Jeffrey A. Towbin, MD; Wojciech Zareba, MD, PhD; Arthur Moss, MD; Hugh Calkins, MD; Mary Brown, MS; Kathleen Gear, RN, for the ARVD/C Investigators

From the Sarver Heart Center, University of Arizona College of Medicine (F.M., K.G.), Tucson, Az; Baylor College of Medicine (J.A.T.), Houston, Tex; University of Rochester, School of Medicine (W.Z., A.M., M.B.), Rochester, NY; and Johns Hopkins University (H.C.), Baltimore, Md.

Correspondence to Frank I. Marcus, MD, 1501 N Campbell Ave, Tucson, AZ 85724-5037. E-mail fmarcus@u.arizona.edu

Key Words: arrhythmia • electrophysiology • cardiomyopathy • genetics • imaging

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

	Introduction

 
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a relatively newly recognized disease. A clinical profile of patients with this condition was first published in 1982.¹ In that report, it was observed that the majority of patients were male. Patients presented with ventricular tachycardia of left bundle-branch block morphology. An enlarged right ventricle due to fibrofatty infiltration of the right ventricular free wall and a familial association were noted. It was considered to be a rare disease of unknown cause. Since then, it has been diagnosed with increasing frequency and has been reported to account for 3% to 5% of unexplained sudden cardiac death under the age of 65 years.^2,3 Evidence of the disease is found in 30% to 50% of family members who are studied by noninvasive tests, including ECG, echocardiography, and signal-averaged ECG.^4,5 It has been suggested that MRI may also be used for diagnostic purposes, but this remains controversial.^6,7 Six genetic loci have been reported to be associated with ARVD/C, and 3 genes have been identified: ryanodine receptor (RyR2),⁸ plakoglobin (JUP),⁹and desmoplakin (DSM).¹⁰ There is autosomal dominant transmission with all the genetic forms except Naxos disease⁸ and Carvahal syndrome,¹¹ both of which have autosomal recessive transmission. These 2 autosomal recessive disorders are variants of ARVD/C that are associated with skin and hair abnormalities. The cardiac presentation in Carvahal syndrome is that of a left ventricular cardiomyopathy and arrhythmias.

With the recognition that ARVD/C is frequently familial and can cause arrhythmic death, the clinical challenge is how to definitively . . . [Full Text of this Article]

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