基因检测在扩张型心肌病中的临床意义
Clinical Implication of Genetic Testing in Dilated Cardiomyopathy.
作者信息
Lee Ju-Hee, Lee Sang Eun, Cho Myeong-Chan
机构信息
Division of Healthcare and Artificial Intelligence, Department of Precision Medicine, National Institute of Health, Cheongju, Korea.
Division of Cardiology, Department of Internal Medicine, Chungbuk National University Hospital, Cheongju, Korea.
出版信息
Int J Heart Fail. 2021 Oct 21;4(1):1-11. doi: 10.36628/ijhf.2021.0024. eCollection 2022 Jan.
Abstract
Dilated cardiomyopathy (DCM) is one of the important causes of heart failure (HF). With the rapidly evolving technologies for gene analysis and tremendous advances in knowledge of HF genetics, the importance of genetic testing in DCM is currently highlighted. Several genetic variants causing DCM have been identified and this information is used for diagnosis, risk stratification and family screening of DCM patients. However, there are still several challenges in applying genetic testing to real clinical practice. In this review, we will summarize recent understandings in DCM genetics and provide an evidence-based practical guide to the use of genetic testing for DCM patients.
摘要
扩张型心肌病（DCM）是心力衰竭（HF）的重要病因之一。随着基因分析技术的迅速发展以及HF遗传学知识的巨大进步，基因检测在DCM中的重要性目前备受关注。已鉴定出几种导致DCM的基因变异，这些信息用于DCM患者的诊断、风险分层和家族筛查。然而，将基因检测应用于实际临床实践仍存在若干挑战。在本综述中，我们将总结DCM遗传学的最新认识，并为DCM患者基因检测的使用提供基于证据的实用指南。
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本文引用的文献
1
2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure.2021年欧洲心脏病学会急性和慢性心力衰竭诊断与治疗指南。
Eur Heart J. 2021 Sep 21;42(36):3599-3726. doi: 10.1093/eurheartj/ehab368.
2
Current status of heart failure: global and Korea.心力衰竭现状：全球及韩国。
Korean J Intern Med. 2020 May;35(3):487-497. doi: 10.3904/kjim.2020.120. Epub 2020 Apr 29.
3
Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.扩张型心肌病变异解读：美国医学遗传学与基因组学学院/ClinGen 指南用于 DCM 精准医学研究的细化。
Circ Genom Precis Med. 2020 Apr;13(2):e002480. doi: 10.1161/CIRCGEN.119.002480. Epub 2020 Mar 11.
4
Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy.心肌疾病临床全外显子组和全基因组测序的优缺点。
Cardiovasc Drugs Ther. 2020 Apr;34(2):241-253. doi: 10.1007/s10557-020-06948-4.
5
Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.细丝蛋白C变体与一种独特的临床和免疫组织化学致心律失常性心肌病表型相关。
Int J Cardiol. 2020 May 15;307:101-108. doi: 10.1016/j.ijcard.2019.09.048. Epub 2019 Oct 8.
6
Genetics of dilated cardiomyopathy: practical implications for heart failure management.扩张型心肌病的遗传学：心力衰竭管理的实际意义。
Nat Rev Cardiol. 2020 May;17(5):286-297. doi: 10.1038/s41569-019-0284-0. Epub 2019 Oct 11.
7
Heart Failure in the Era of Precision Medicine: A Scientific Statement From the American Heart Association.精准医疗时代的心力衰竭：美国心脏协会的科学声明。
Circ Genom Precis Med. 2019 Oct;12(10):458-485. doi: 10.1161/HCG.0000000000000058. Epub 2019 Sep 12.
8
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