ACM is usually inherited in an autosomal dominant pattern, with variable expression. Only 30% to 50% of individuals affected by ACM will test positive to one of the known genetic mutations in chromosomal loci associated with the disease. Novel studies showed that mutations (point mutations) in genes encoding for desmosomal proteins (see intercalated disc) are the main causatives for the development of this disease. Recently it has been shown, that mutations in the desmin DES gene could cause ACM. Desmin is an intermediate filament protein, which is linked to the desmosomes. Different DES mutations cause an abnormal aggregation of desmin and associated proteins. The penetrance is 20–35% in general, but significantly higher in Italy. Seven gene loci have been implicated in ACM. It is unclear whether the pathogenesis varies with the different loci involved. Standard genetic screening test are currently tested and evaluated in different state of the art cardiovascular research centres and hospitals. Types include: Type OMIM Gene Locus Reference ARVD1lpl TGFB3 14q23-q24 ARVD2 RYR2 1q42-q43 ARVD3 ? 14q12-q22 ARVD4 ? 2q32.1-q32.3 ARVD5 TMEM43 3p23 ARVD6 ? 10p14-p12 ARVD7 DES 10q22.3 ARVD8 DSP 6p24 ARVD9 PKP2 12p11 ARVD10 DSG2 18q12.1-q12 ARVD11 DSC2 18q12.1 ARVD12 JUP 17q21 ILK 11p15.4 LMNA
Arrhythmogenic cardiomyopathy
Brugada syndrome
Ischemic cardiomyopathy
Long QT syndrome
Noncompaction cardiomyopathy
Alcoholic cardiomyopathy
Aicardi syndrome
Amyloid cardiomyopathy