Key result
De novo DES mutation presents with LVNC, progressive conduction defect, and SCAD.
Why the study?
Clinical cardiac phenotypes of desmin-related myopathy are not yet fully understood.
Case Report (n=1)
This case expands the known cardiac phenotypes of Desmin-related myopathy and suggests considering genetic testing for DES mutations in patients with unexplained cardiomyopathy, conduction defects, and coronary dissection.
Desmin-related myopathy (DRM) is a rare heritable cardiac and skeletal muscle disease caused by mutations in the desmin gene (DES). DRM is generally characterized by skeletal muscle weakness, conduction disturbance, and dilated cardiomyopathy. However, the clinical cardiac phenotypes of DRM are not yet fully understood. Herein, we report the first case of DRM with the de novo missense DES mutation, R454W, that is characterized by left ventricular non-compaction cardiomyopathy, progressive cardiac conduction defect, spontaneous coronary artery dissection, and no skeletal muscle weakness. Our case findings suggest that clinicians should genetically test patients who have cardiomyopathy, progressive cardiac conduction defect, and coronary artery dissection, even if the patient has neither family history of DRM nor skeletal muscle symptoms.
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Tamiya et al. (2020) conducted a case report in Desmin-related myopathy (n=1). A patient with a de novo missense DES mutation (R454W) presented with left ventricular non-compaction cardiomyopathy, progressive cardiac conduction defect, and spontaneous coronary artery dissection.
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