1. Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection
- Author
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Daisuke Fukamachi, Kimie Ohkubo, Ran Tamiya, Naokata Sumitomo, Takumi Hatta, Yuki Saito, Taisuke Ishikawa, Yasuo Okumura, Yoshihiro Aizawa, Akira Sezai, Koichi Nagashima, Naomasa Makita, and Masashi Tanaka more...
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lcsh:Diseases of the circulatory (Cardiovascular) system ,medicine.medical_specialty ,Cardiomyopathy ,heart failure ,Case Report ,Case Reports ,coronary artery dissection ,030204 cardiovascular system & hematology ,Muscular Dystrophies ,Desmin ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Cardiac conduction ,medicine ,Humans ,Missense mutation ,030212 general & internal medicine ,Myopathy ,business.industry ,Dissection ,Skeletal muscle ,Dilated cardiomyopathy ,medicine.disease ,Coronary Vessels ,Pedigree ,Heart Block ,medicine.anatomical_structure ,lcsh:RC666-701 ,Heart failure ,Cardiology ,medicine.symptom ,Cardiomyopathies ,Cardiology and Cardiovascular Medicine ,business - 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. more...
- Published
- 2020
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