Clinical Implication of Genetic Testing in Dilated Cardiomyopathy.

International Journal of Heart Failure Pub Date : 2021-10-21 eCollection Date: 2022-01-01 DOI:10.36628/ijhf.2021.0024
Ju-Hee Lee, Sang Eun Lee, Myeong-Chan Cho
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引用次数: 2

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.

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扩张型心肌病基因检测的临床意义。
扩张型心肌病(DCM)是心衰(HF)的重要病因之一。随着基因分析技术的快速发展和心衰遗传学知识的巨大进步,基因检测在DCM中的重要性目前得到强调。已经确定了几种导致DCM的遗传变异,这些信息用于DCM患者的诊断、风险分层和家庭筛查。然而,在将基因检测应用于实际临床实践中仍然存在一些挑战。在这篇综述中,我们将总结最近对DCM遗传学的理解,并为DCM患者使用基因检测提供循证实用指南。
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