Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection

Abstract

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.

Special Issue “Cardiovascular Genetics”

“…Kulikova et al reported in this Special Issue an LVNC family carrying the DES missense mutation p.A337P, leading to a severe filament assembly defect in transfected cells [ 35 ]. This genetic finding is in good agreement with further reports of other groups identifying DES as a novel LVNC gene [ 36 , 37 , 38 ]. In contrast to monogenic inherited cardiomyopathies, AF is a complex heart rhythm disorder caused by environmental and multi-genic risk factors [ 39 ] and significantly increases the risk for stroke and heart failure.…”

SnapshotDx Quiz: March 2022

“…Respiratory muscle weakness is a major complication in patients with DRM, sometimes leading to respiratory failure and death (Tamiya et al, 2020).…”

Features of myocardial injury detected by cardiac magnetic resonance in a patient with desmin‐related restrictive cardiomyopathy

“… 2 Non‐compaction cardiomyopathy has also been reported in patients with cardiac disease. 12 Arrhythmic manifestations include atrioventricular conduction defects, bundle branch blocks, atrial fibrillation, and ventricular tachycardia. 8 …”