Advances in Genetics: Dominant Forms

  • Alessandra Rampazzo
  • Gian Antonio Danieli


Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a progressive cardiomyopathy with different clinical-pathological patterns: (a) “silent” cardiomyopathic abnormalities localized in the right ventricle in asymptomatic victims of sudden death; (b) “overt” disease characterized by segmental or global right ventricular structural changes, often associated with histological evidence of left ventricular involvement and underlying symptomatic ventricular arrhythmias; and (c) “end-stage” biventricular cardiomyopathy mimicking dilated cardiomyopathy, leading to progressive heart failure and eventually requiring heart transplantation [1]. A scoring system to establish the diagnosis of ARVC/D has been developed on the basis of the presence of major and minor criteria encompassing structural, histological, electrocardiographic, arrhythmic, and genetic features of the disease [2].


Ventricular Cardiomyopathy Arrhythmogenic Right Ventricular Dysplasia Catecholaminergic Polymorphic Ventricular Tachycardia Desmosomal Protein RYR2 Gene 
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Copyright information

© Springer-Verlag Italia 2007

Authors and Affiliations

  • Alessandra Rampazzo
    • 1
  • Gian Antonio Danieli
    • 1
  1. 1.Department of BiologyUniversity of PaduaItaly

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