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

Ran Tamiya, Yuki Saito, Daisuke Fukamachi, Koichi Nagashima, Yoshihiro Aizawa, Kimie Ohkubo, Takumi Hatta, Akira Sezai, Masashi Tanaka, Taisuke Ishikawa, Naomasa Makita, Naokata Sumitomo, Yasuo Okumura

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1338-1343
Number of pages6
JournalESC heart failure
Volume7
Issue number3
DOIs
Publication statusPublished - 1 Jun 2020

Keywords

  • Cardiomyopathy
  • coronary artery dissection
  • heart failure

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