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Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

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The Right Ventricle in Health and Disease

Part of the book series: Respiratory Medicine ((RM))

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Abstract

In this chapter, we focus on inherited genetic abnormalities that affect the normally constructed right ventricle. Of them, the most common form is arrhythmogenic right ventricular cardiomyopathy (ARVC), an inherited cardiac disease characterized by myocyte loss and fibro-fatty tissue replacement leading to life-threatening ventricular arrhythmias, progressive ventricular dysfunction of the right and the left ventricle, and heart failure. A familial history of ARVC is frequently present as the disease is usually inherited in an autosomal dominant pattern complicated by incomplete penetrance and significant variable expressivity. A genetic defect can be confirmed in approximately 40 % of cases and at this time 12 different ARVC loci have been reported. ARVC is considered a disease of the desmosomal cell–cell junction at the intercalated disc: indeed, mutations in five desmosomal genes (DSP, PKP2, DSG2, DSC2, and JUP) represent the most common cause of the disease. The role of other three non-desmosomal genes (TGF-β3, RYR2, and TMEM43) has been less well established. Recently, novel variants in the giant sarcomeric protein titin (TTN) were discovered associated with ARVC. Structural impairment of titin probably leads to proteolysis and apoptosis constitutes a novel mechanism underlying myocardial remodeling and sudden death. Other genetic disorders that may affect the right ventricle mimicking ARVC are dilated cardiomyopathy, laminopathies, Uhl’s anomaly, and sarcoidosis.

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Authors and Affiliations

  1. Cardiovascular Institute, University of Colorado Anschutz Medical Campus, 12700 E. 19th Avenue, F442, Auroroa, CO, 80045, USA

    Luisa Mestroni M.D.

  2. Department of Cardiology, Ospedali Riuniti and University of Trieste, Via P. Valdoni.7, Trieste, 34149, Italy

    Francesca Brun M.D., Anita Spezzacatene M.D. & Gianfranco Sinagra M.D., F.E.S.C.

  3. Department of Medicine, University of Colorado Denver, 12700 East 19th Avenue, F442, Room 8022, Aurora, CO, 80045, USA

    Matthew R. G. Taylor M.D., Ph.D.

Authors
  1. Luisa Mestroni M.D.
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  2. Francesca Brun M.D.
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  3. Anita Spezzacatene M.D.
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  4. Gianfranco Sinagra M.D., F.E.S.C.
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  5. Matthew R. G. Taylor M.D., Ph.D.
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Correspondence to Luisa Mestroni M.D. .

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Editors and Affiliations

  1. Department of Medicine, Virginia Commonwealth University, Richmond, Virginia, USA

    Norbert F. Voelkel

  2. Pediatric Heart Center, Justus-Liebig University, Giessen, Germany

    Dietmar Schranz

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Mestroni, L., Brun, F., Spezzacatene, A., Sinagra, G., Taylor, M.R.G. (2015). Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). In: Voelkel, N., Schranz, D. (eds) The Right Ventricle in Health and Disease. Respiratory Medicine. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-1065-6_16

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  • DOI: https://doi.org/10.1007/978-1-4939-1065-6_16

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