Key result
A specific desmin variant (DES, c.1360C>T; p.Arg454Trp) is highly penetrant and causes life-threatening arrhythmic cardiomyopathy with a poor prognosis.
Case Report (n=2)
The DES c.1360C>T (p.Arg454Trp) variant is associated with highly penetrant, life-threatening arrhythmic cardiomyopathy requiring careful electrophysiological evaluation.
Desmin-related myopathy (DRM) is a rare condition characterized by skeletal muscle weakness with frequent cardiac involvement because of abnormalities of desmin, which is the main component of intermediate filament protein expressed in skeletal, cardiac, and smooth muscle. The clinical manifestations of DRM have been reported to be highly variable. The present article highlights a specific desmin variant (DES, c.1360C>T; p.Arg454Trp) in 2 unrelated cases, which is highly penetrant, portends poor prognosis, and warrants careful electrophysiological evaluation.
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Oomen et al. (2018) conducted a case report in Desmin-related myopathy (DRM) (n=2). Desmin variant (DES, c.1360C>T; p.Arg454Trp) was evaluated. A specific desmin variant (DES, c.1360C>T; p.Arg454Trp) is highly penetrant and causes life-threatening arrhythmic cardiomyopathy with a poor prognosis.
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