Abstract
Key Teaching Points • Desmin-related myopathy (DRM) is characterized by skeletal muscle weakness with frequent cardiac involvement. The clinical manifestations of DRM are variable. • The desmin variant (DES, c.1360C>T; p.Arg454Trp) is highly penetrant and is associated with an accelerated and severe cardiac phenotype with a high incidence of ventricular arrhythmias, progressive cardiomyopathy, and death. • Genetic testing should be considered in patients with early-onset atrioventricular conduction disease with or without cardiomyopathy. • Urgent electrophysiological intervention and early referral for transplantation evaluation may improve outcomes in patients with this specific desmin variant.
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