Poor Myocardial Compaction in a Patient with Recessive MYL2 Myopathy

Ayaka Monoi Tamamitsu; Yu Nakagama; Yukako Domoto; Kenichi Yoshida; Seishi Ogawa; Keiichi Hirono; Takahiro Shindo; Yosuke Ogawa; Katsutoshi Nakano; Hiroko Asakai; Yoichiro Hirata; Hikoro Matsui; Ryo Inuzuka

doi:10.1536/ihj.20-639

Case Reports

Poor Myocardial Compaction in a Patient with Recessive MYL2 Myopathy

Ayaka Monoi Tamamitsu, Yu Nakagama, Yukako Domoto, Kenichi Yoshida, Seishi Ogawa, Keiichi Hirono, Takahiro Shindo, Yosuke Ogawa, Katsutoshi Nakano, Hiroko Asakai, Yoichiro Hirata, Hikoro Matsui, Ryo Inuzuka

Author information

Ayaka Monoi Tamamitsu
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo
Yu Nakagama
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo
Department of Parasitology, Graduate School of Medicine, Osaka City University
Yukako Domoto
Department of Pathology, Graduate School of Medicine, The University of Tokyo
Kenichi Yoshida
Department of Pathology, Graduate School of Medicine, The University of Tokyo
Seishi Ogawa
Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University
Keiichi Hirono
Department of Pediatrics, Graduate School of Medicine, University of Toyama
Takahiro Shindo
Division of Cardiology, National Center for Child Health and Development
Yosuke Ogawa
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo
Katsutoshi Nakano
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo
Hiroko Asakai
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo
Yoichiro Hirata
Department of Pediatrics, Kitasato University School of Medicine
Hikoro Matsui
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo
Ryo Inuzuka
Department of Pediatrics, Graduate School of Medicine, The University of Tokyo

Keywords: Cardiomyopathy, Noncompaction, Congenital heart disease, Heart failure, Skeletal myopathy, Pediatrics, Familial heart disease, Cardiomyocyte, Muscle fiber, Histopathology

JOURNAL FREE ACCESS

2021 Volume 62 Issue 2 Pages 445-447

DOI https://doi.org/10.1536/ihj.20-639

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Abstract

Recessive mutations in the Myosin regulatory light chain 2 (MYL2) gene are the cause of an infantile-onset myopathy, associated with fatal myocardial disease of variable macromorphology. We here present the first Japanese family affected with recessive MYL2 myopathy. Affected siblings manifested typical features and the proband's autopsy findings were compatible with the diagnosis of noncompaction cardiomyopathy. The rapidly progressive clinical course of this recessive MYL2 cardiomyopathy highlights the crucial role of c-terminal tails in MYL2 protein in maintaining cardiac morphology and function.

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