Genotype-Phenotype Correlations

  • Barbara Bauce
  • Andrea Nava


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, 2, 3, 4, 5, 6, 7, 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].


Mutation Carrier Implantable Cardioverter Defibril Ventricular Cardiomyopathy Arrhythmogenic Right Ventricular Dysplasia Syncopic Episode 
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Copyright information

© Springer-Verlag Italia 2007

Authors and Affiliations

  • Barbara Bauce
    • 1
  • Andrea Nava
    • 1
  1. 1.Department of Cardiological, Thoracic and Vascular SciencesUniversity of PaduaItaly

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