Division of Cardiology, Department of Medicine, Nihon University School of Medicine, 30-1 Ohyaguchi-kamicho, Itabashi-ku, Tokyo, 173-8610, Japan.
Department of Cardiovascular Surgery, Nihon University School of Medicine, Tokyo, Japan.
ESC Heart Fail. 2020 Jun;7(3):1338-1343. doi: 10.1002/ehf2.12667. Epub 2020 Mar 6.
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.
结蛋白相关性肌病（DRM）是一种由结蛋白基因（DES）突变引起的罕见遗传性心脏和骨骼肌疾病。DRM 通常表现为骨骼肌无力、传导障碍和扩张型心肌病。然而，DRM 的临床心脏表型尚未完全阐明。本文报道首例具有从头错义 DES 突变 R454W 的 DRM 病例，其特征为左心室心肌致密化不全、进行性心脏传导缺陷、自发性冠状动脉夹层，而无骨骼肌无力。本病例提示，即使患者无 DRM 家族史和骨骼肌症状，临床医生也应考虑对有心肌病、进行性心脏传导缺陷和冠状动脉夹层的患者进行基因检测。
