Titlebook: Arrhythmogenic RV Cardiomyopathy/Dysplasia; Recent Advances Frank I. Markus,Andrea Nava,Gaetano Thiene Book 20071st edition Springer-Verlag

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Carla Viegas,Susana Viegas,Raquel Sabinoily members of affected individuals or those who may have a subclinical form of the disease, is limited by the lack of a gold standard for the diagnosis of ARVC/D. Additionally, the echocardiographic natural history of the disease has not yet been defined.

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Advances in Genetics: Dominant Forms,ilure and eventually requiring heart transplantation [.]. 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 [.].

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Genotype-Phenotype Correlations,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 [., .] (Fig. 3.1). These discoveries have confirmed the genetic heterogeneity of ARVC/D [.].

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Echocardiography,ily members of affected individuals or those who may have a subclinical form of the disease, is limited by the lack of a gold standard for the diagnosis of ARVC/D. Additionally, the echocardiographic natural history of the disease has not yet been defined.

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Possible Causative or Contributing Role of Viruses,d and shown to be a disease of the desmosome [.]. Mutations in desmoplakin, plakoglobin, plakophilin, desmoglein, and desmocollin have been identified, along with the desmosome modifying gene TGF-β3 [.–.].

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https://doi.org/10.1007/3-7643-7593-0ardium with subsequent replacement by fatty and fibrous tissue. As a result of these pathomorphological alterations, global and regional right (and left) ventricular dysfunction and ventricular tachyarrhythmias due to areas of slow conduction and dispersion of refractoriness are the major clinical findings and manifestations of ARVC/D [.–.].