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

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^*

^*Corresponding author for this work

Itoigawa Community Medical Support Unit

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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.

Original language	English
Pages (from-to)	445-447
Number of pages	3
Journal	International Heart Journal
Volume	62
Issue number	2
DOIs	https://doi.org/10.1536/ihj.20-639
State	Published - 2021

Keywords

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

ASJC Scopus subject areas

General Medicine

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10.1536/ihj.20-639

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title = "Poor myocardial compaction in a patient with recessive MYL2 myopathy",

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{\textquoteright}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.",

keywords = "Cardiomyocyte, Cardiomyopathy, Congenital heart disease, Familial heart disease, Heart failure, Histopathology, Muscle fiber, Noncompaction, Pediatrics, Skeletal myopathy",

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

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doi = "10.1536/ihj.20-639",

language = "英語",

volume = "62",

pages = "445--447",

journal = "International Heart Journal",

issn = "1349-2365",

publisher = "International Heart Journal Association",

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T1 - Poor myocardial compaction in a patient with recessive MYL2 myopathy

AU - Tamamitsu, Ayaka Monoi

AU - Nakagama, Yu

AU - Domoto, Yukako

AU - Yoshida, Kenichi

AU - Ogawa, Seishi

AU - Hirono, Keiichi

AU - Shindo, Takahiro

AU - Ogawa, Yosuke

AU - Nakano, Katsutoshi

AU - Asakai, Hiroko

AU - Hirata, Yoichiro

AU - Matsui, Hikoro

AU - Inuzuka, Ryo

PY - 2021

Y1 - 2021

N2 - 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.

AB - 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.

KW - Cardiomyocyte

KW - Cardiomyopathy

KW - Congenital heart disease

KW - Familial heart disease

KW - Heart failure

KW - Histopathology

KW - Muscle fiber

KW - Noncompaction

KW - Pediatrics

KW - Skeletal myopathy

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DO - 10.1536/ihj.20-639

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SP - 445

EP - 447

JO - International Heart Journal

JF - International Heart Journal

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Poor myocardial compaction in a patient with recessive MYL2 myopathy

Abstract

Keywords

ASJC Scopus subject areas

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