Abstract
Name of the disease (synonyms) Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inheritable disease characterized by structural and functional abnormalities of the right ventricle (RV), with or without concomitant left ventricular (LV) disease. The diagnosis ARVC is made when a patient fulfils the recently revised criteria. Criteria encompass global and/or regional dysfunction and structural changes; repolarization abnormalities; depolarization and conduction abnormalities; arrhythmias; family history/the results of genetic testing; and tissue characterization by endomyocardial biopsy. Either localized or diffuse atrophy, with subsequent replacement by fibrous and fatty tissue mainly of the RV outflow tract, RV inflow tract and RV apex (‘triangle of dysplasia’) represent the histopathological characteristics of ARVC. Synonyms: arrhythmogenic right ventricular dysplasia (ARVD); arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D); arrhythmogenic cardiomyopathy (ACM); arrhythmogenic left-dominant cardiomyopathy; and arrhythmogenic LV cardiomyopathy (ALVC). OMIM# of the disease 107970; 600996; 602086; 602087; 604400; 604401; 607450; 609040; 610193; 610476; 611528. Name of the analyzed genes or DNA/chromosome segments (1) Cytoskeletal protein genes: (a) Desmin gene (DES), locus 2q35#; (b) Titin gene (TTN), locus 2q31.2#. (2) Nuclear envelope protein genes: (a) Lamin A/C gene (LMNA), locus 1q22#. (3) Desmosomal protein genes: (a) Desmocollin 2 gene (DSC2), locus 18q12.1; (b) Desmoglein 2 gene (DSG2), locus 18q12.1; (c) Desmoplakin gene (DSP), locus 6p24.3; (d) Junction plakoglobin gene (JUP), locus 17q21.2; (e) Plakophilin 2 gene (PKP2), locus 12p11.21. (4) Calcium/sodium-handling genes: (a) Phospholamban gene (PLN), locus 6q22.31#; (b) Ryanodine receptor 2 gene (RYR2), locus 1q43*. (5) Other genes: (a) Alpha-T-catenin (CTNNA3), locus 10q21.3#; (b) Transforming growth factor-β3 (TGFβ3), locus 14q24.3*; (c) Transmembrane protein 43 (TMEM43), locus 3p25.1. #Indicates gene not yet annotated as ARVC related in the OMIM database; *indicates the involvement of these genes is based on single publications and therefore controversial. OMIM# of the gene(s) (1) Cytoskeletal protein genes: (a) 125660 and (b) 188840#. (2) Nuclear envelope protein genes: (a) 150330#. (3) Desmosomal protein genes: (a) 125645; (b) 125671; (c) 125647; (d) 173325; and (e) 602861. (4) Calcium/sodium-handling genes: (a) 172405# and (b) 180902*. (5) Other genes: (a) 607667#; (b) 190230*; and (c) 612048. #Indicates gene not yet annotated as ARVC related in the OMIM database; *denotes the involvement of these genes is based on single publications and therefore controversial.
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