Die Genetik der arrhythmogenen rechtsventrikularen Kardiomyopathie [Genetics of arrhythmogenic right ventricular cardiomyopathy]

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary heart muscle disorder associated with fatty or fibrofatty replacement of cardiac myocytes. The pathognomonic process starts in the right ventricular myocardium but, as disease progresses, can also involve the left ventricular myocardium in many cases. Clinically, arrhythmias originating in the right ventricle predominate the clinical picture. Sudden cardiac death is a threat to the patient but its incidence may vary considerably probably due to different genetic profiles. It is estimated that more than half of all ARVC cases are due to genetic defects. Five autosomal-dominant ARVC disease gene loci have been proposed on chromosomes 1q42-q43, 2q32, 3p23, 14q12-q22 and 14q23-q24, but no disease gene has yet been identified. Chromosome 17q21 harbors a recessive mutation in a yet unknown gene responsible for ARVC with nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease)