ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy

Key Teaching Points•The variant p.Tyr473Cys in the ACTN2 gene, coding for the Z-disk protein alpha-actinin-2, leads to a dominantly inherited phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy (ACM). This implies that analysis of ACTN2 might be considered in patients with ACM in whom genetic screening was inconclusive.•The signal for plakoglobin was markedly reduced in the myocardial biopsy of our index case. This further...