Arrhythmogenic right ventricular cardiomyopathy, type 1

Common Name(s)

Arrhythmogenic right ventricular cardiomyopathy, type 1

Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. {2:Basso et al. (2009)} provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics. Genetic Heterogeneity of Familial Arrhythmogenic Right Ventricular Dysplasia Other forms of ARVD include ARVD2 ({600996}), caused by mutation in the RYR2 gene ({180902}) on chromosome 1q42-q43; ARVD3 ({602086}), on chromosome 14q12-q22; ARVD4 ({602087}), on chromosome 2q32.1-q32.3; ARVD5 ({604400}), caused by mutation in the TMEM43 gene ({612048}) on chromosome 3p23; ARVD6 ({604401}), on chromosome 10p14-p12; ARVD8 ({607450}), caused by mutation in the DSP gene ({125647}) on chromosome 6p24; ARVD9 ({609040}), caused by mutation in the PKP2 gene ({602861}) on chromosome 12p11; ARVD10 ({610193}), caused by mutation in the DSG2 ({125671}) on chromosome 18q12.1; ARVD11 ({610476}), caused by mutation in the DSC2 gene ({125645}) on chromosome 18q12.1; ARVD12 ({611528}), caused by mutation in the JUP gene ({173325}) on chromosome 17q21; and ARVD13 ({615616}), caused by mutation in the CTNNA3 gene ({607667}) on chromosome 10q21. ARVD7 is a former designation for a form of myopathy and ARVD mapped to chromosome 10q22, which was later found to be a form of myofibrillar myopathy (MFM1; {601419}) caused by mutation in the DES gene ({125660}) on chromosome 2q35. {18:Nitoiu et al. (2014)} reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, and JUP genes.
 

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