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Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): A Review of Molecular and Clinical Literature

  • Review Paper
  • Published:
Journal of Genetic Counseling

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is heritable cardiomyopathy that may result in arrhythmia, heart failure, and sudden cardiac death (SCD). Approximately 50–60% of ARVD/C patient will have an identifiable pathogenic mutation in one of seven genes associated with the cardiac desmosome and other cardiac pathways. Genetic counseling remains complicated, however, because of great variable expressivity and reduced penetrance, even within members of the same family. Diagnosis of ARVD/C is made by meeting a set of major and minor diagnostic criteria, revised in 2010. Despite this, misdiagnosis is a chronic problem. Management of ARVD/C is aimed at reducing risk of sudden death/arrhythmias and preventing progression of disease. Strenuous physical activity is increasingly recognized as a significant risk factor in disease presentation and progression and is an important factor in preventative management. Anticipation of the psychosocial implications of this disease is also an important aspect of patient management. This review presents an overview of the clinical diagnosis, management, as well as disease mechanism and genetics of this rare cardiomyopathy.

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Acknowledgements

The ARVD/C program is grateful to the ARVD/C patients and families who have made this work possible. The author would like to also thank the additional genetic counselors in the ARVD/C program at Johns Hopkins: Crystal Tichnell, MGC, and Cynthia James, ScM, PhD, CGC.

Funding Sources

The Johns Hopkins ARVD Program (www.ARVD.com) is supported by the Bogle Foundation, the Healing Hearts Foundation, the Campanella family, the Wilmerding Endowments, and the Dr. Francis P. Chiaramonte Private Foundation. The author wishes to acknowledge funding to the ARVD Program from the St. Jude Medical Foundation, Medtronic Inc., and Boston Scientific Corp.

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  1. Division of Cardiology, ARVD/C Program, Johns Hopkins Hospital, 600 N. Wolfe St. Carnegie 530, Baltimore, MD, 21287, USA

    Brittney Murray

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  1. Brittney Murray
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Murray, B. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): A Review of Molecular and Clinical Literature. J Genet Counsel 21, 494–504 (2012). https://doi.org/10.1007/s10897-012-9497-7

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  • DOI: https://doi.org/10.1007/s10897-012-9497-7

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