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肌动蛋白和硫氧还蛋白还原酶2基因共存突变导致扩张型心肌病的罕见病例

A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy.

作者信息

Khatun Nazima, Zaveri Sahil, Salciccioli Louis, John Sabu

机构信息

Internal Medicine, State University of New York Downstate Medical Center, Brooklyn, USA.

Cardiovascular Disease, State University of New York Downstate Medical Center, Brooklyn, USA.

出版信息

Cureus. 2023 Jun 17;15(6):e40560. doi: 10.7759/cureus.40560. eCollection 2023 Jun.

DOI:10.7759/cureus.40560
PMID:37465804
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10351334/
Abstract

Desmin () maintains the overall structure of cardiomyocytes and cytoskeletal organization within striated muscle cells. Mitochondrial thioredoxin reductase 2 () is essential for mitochondrial oxygen radical scavenging. We describe a rare case of dilated cardiomyopathy (DCM) in an 18-year-old female with a heterozygous mutation involving both and genes.

摘要

结蛋白（）维持心肌细胞的整体结构以及横纹肌细胞内的细胞骨架组织。线粒体硫氧还蛋白还原酶2（）对于清除线粒体氧自由基至关重要。我们描述了一名18岁女性患扩张型心肌病（DCM）的罕见病例，该患者同时存在涉及和基因的杂合突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b88/10351334/f3e1b1b96ca5/cureus-0015-00000040560-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b88/10351334/f3e1b1b96ca5/cureus-0015-00000040560-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b88/10351334/f3e1b1b96ca5/cureus-0015-00000040560-i01.jpg

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本文引用的文献

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Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.结蛋白缺失性心肌病：一颗濒临代谢危机的心脏。
Int J Mol Sci. 2022 Oct 10;23(19):12020. doi: 10.3390/ijms231912020.
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Electrical Ventricular Remodeling in Dilated Cardiomyopathy.扩张型心肌病中的电重构。
Cells. 2021 Oct 15;10(10):2767. doi: 10.3390/cells10102767.
3
Heterozygous desmin gene () mutation contributes to familial dilated cardiomyopathy.杂合性结蛋白基因（）突变导致家族性扩张型心肌病。
J Int Med Res. 2021 Apr;49(4):3000605211006598. doi: 10.1177/03000605211006598.
4
Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association.遗传性心血管疾病的基因检测：美国心脏协会的科学声明。
Circ Genom Precis Med. 2020 Aug;13(4):e000067. doi: 10.1161/HCG.0000000000000067. Epub 2020 Jul 23.
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Did a shared thioredoxin-reductase gene mutation lead to maternal peripartum cardiomyopathy and fatal dilated cardiomyopathy in her son? A case report.一个共同的硫氧还蛋白还原酶基因突变会导致母亲围产期心肌病及其儿子的致命性扩张型心肌病吗？一例病例报告。
Case Rep Womens Health. 2020 Mar 26;26:e00196. doi: 10.1016/j.crwh.2020.e00196. eCollection 2020 Apr.
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Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.扩张型心肌病全外显子组测序的效用的前瞻性评估。
J Am Heart Assoc. 2020 Jan 21;9(2):e013346. doi: 10.1161/JAHA.119.013346. Epub 2020 Jan 14.
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Dilated cardiomyopathy: from epidemiologic to genetic phenotypes: A translational review of current literature.扩张型心肌病：从流行病学表型到遗传学表型：对当前文献的综述。
J Intern Med. 2019 Oct;286(4):362-372. doi: 10.1111/joim.12944. Epub 2019 Jul 29.
8
Dilated cardiomyopathy.扩张型心肌病。
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Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.心肌病的遗传学评估——美国心力衰竭学会实践指南。
J Card Fail. 2018 May;24(5):281-302. doi: 10.1016/j.cardfail.2018.03.004. Epub 2018 Mar 19.
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Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.扩张型心肌病：遗传决定因素与机制
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