Open AccessDesmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection
Author(s) -
Tamiya Ran,
Saito Yuki,
Fukamachi Daisuke,
Nagashima Koichi,
Aizawa Yoshihiro,
Ohkubo Kimie,
Hatta Takumi,
Sezai Akira,
Tanaka Masashi,
Ishikawa Taisuke,
Makita Naomasa,
Sumitomo Naokata,
Okumura Yasuo
Publication year - 2020
Publication title -
esc heart failure
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.787
H-Index - 25
ISSN - 2055-5822
DOI - 10.1002/ehf2.12667
Subject(s) - medicine , desmin , cardiomyopathy , cardiology , restrictive cardiomyopathy , myopathy , dilated cardiomyopathy , heart failure , coronary artery disease , missense mutation , skeletal muscle , mutation , genetics , gene , biology , immunohistochemistry , vimentin
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.