Key result
A novel variant in the skeletal muscle-enriched protein ACTA1 was associated with a predominant cardiac phenotype of dominant dilated cardiomyopathy without functional skeletal myopathy.
Case Report
This case highlights that a dysfunctional skeletal muscle-enriched protein (ACTA1) can cause a predominant cardiac phenotype such as dilated cardiomyopathy.
ACTA1 variants may underlie isolated cardiomyopathy; extends phenotypic spectrum but leaves open testing and prevalence questions.
keletal myopathies because of variants in the -skeletal isoform of actin, ACTA1 (Actin, alpha skeletal muscle), are widely reported; however, associated cardiomyopathies are exceedingly rare. We present a unique case of a dominant cardiomyopathy without functional skeletal myopathy associated with a novel variant in ACTA1. This case highlights the implications of a dysfunctional skeletal muscle-enriched protein causing a predominant cardiac phenotype.
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Reza et al. (2018) conducted a case report in Dilated Cardiomyopathy. ACTA1 novel variant was evaluated. A novel variant in the skeletal muscle-enriched protein ACTA1 was associated with a predominant cardiac phenotype of dominant dilated cardiomyopathy without functional skeletal myopathy.
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