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Genotype-Phenotype Correlations

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Arrhythmogenic RV Cardiomyopathy/Dysplasia

Abstract

The recent genetic discoveries in arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) permit genotype-phenotype correlation in an increasing number of subjects, providing better knowledge of the diagnostic criteria, natural history, and ethiopathogenesis of the disease. Three different groups of genes have been found to be linked to ARVC/D: the ryanodine receptor-2 gene (RyR2), the gene encoding for the growth factor TGFbeta 3 and five genes encoding for intercellular junction proteins (plakoglobin, desmoplakin, plakophilin-2, desmoglein-2, and desmocollin-2) [1–8].Mutations of all these genes lead to the pathogenetic process that is the basis of the disease, consisting of myocyte death followed by myocardial atrophy and fibrofatty replacement [9, 10] (Fig. 3.1). These discoveries have confirmed the genetic heterogeneity of ARVC/D [11].

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Author information

Authors and Affiliations

  1. Department of Cardiological, Thoracic and Vascular Sciences, University of Padua, Italy

    Barbara Bauce MD, PhD & Andrea Nava MD

Authors
  1. Barbara Bauce MD, PhD
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  2. Andrea Nava MD
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Editor information

Editors and Affiliations

  1. Section of Cardiology, Department of Medicine, Sarver Heart Center, University of Arizona, Tucson, AZ, USA

    Frank I. Markus

  2. Department of Cardiological, Thoracic and Vascular Sciences, University of Padua, Italy

    Andrea Nava

  3. Department of Medical Diagnostic Sciences, University of Padua, Italy

    Gaetano Thiene

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© 2007 Springer-Verlag Italia

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Bauce, B., Nava, A. (2007). Genotype-Phenotype Correlations. In: Markus, F.I., Nava, A., Thiene, G. (eds) Arrhythmogenic RV Cardiomyopathy/Dysplasia. Springer, Milano. https://doi.org/10.1007/978-88-470-0490-0_4

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  • DOI: https://doi.org/10.1007/978-88-470-0490-0_4

  • Publisher Name: Springer, Milano

  • Print ISBN: 978-88-470-0489-4

  • Online ISBN: 978-88-470-0490-0

  • eBook Packages: MedicineMedicine (R0)

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