Case 12 was a 45-year-old DCM male whose muscle biopsy was indicative of dystrophic changes with no evidence of inflammation, in addition to elevated CK, diffuse myopathy in electromyography, and heterozygous carrier status of a missense VUS in structural SMCHD1 gene (c.4787G>A). Here, SMCHD1 is linked to familial dilated cardiomyopathy.