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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is classically associated with desmosomal gene mutations but phenotypically overlaps with other cardiomyopathies. In a cohort of 137 ARVC probands negative for pathogenic variants in desmosomal genes, TMEM43, SCN5A, and PLN, targeted sequencing of eight sarcomeric genes including ACTC1 identified six rare variants across MYL3, MYH7, and MYBPC3, but none in ACTC1 (PMID:29709087).
No additional affected relatives carrying ACTC1 variants were reported, and no functional assays have been performed to support a pathogenic role of ACTC1 in ARVC. Consequently, current evidence does not substantiate ACTC1 as a disease gene for ARVC, and ACTC1 variants identified incidentally on cardiomyopathy panels should be interpreted cautiously in this context.
Gene–Disease AssociationLimitedNo ACTC1 variants identified in a cohort of 137 ARVC probands ([PMID:29709087]); absence of segregation or functional data Genetic EvidenceLimited0 probands with ACTC1 variants among 137 ARVC cases ([PMID:29709087]); segregation data non-informative Functional EvidenceLimitedNo experimental studies linking ACTC1 to ARVC phenotype |