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扩张型心肌病的基因评估

The Genetic Evaluation of Dilated Cardiomyopathy.

作者信息

Bui Quan M, Ding Jeffrey, Hong Kimberly N, Adler Eric A

机构信息

Division of Cardiovascular Medicine, Department of Medicine, University of California, San Diego, La Jolla, California, USA.

University of California San Diego School of Medicine, La Jolla, California, USA.

出版信息

Struct Heart. 2023 Jul 15;7(5):100200. doi: 10.1016/j.shj.2023.100200. eCollection 2023 Sep.

Abstract

Dilated cardiomyopathy (DCM) is a common cause of heart failure and is the primary indication for heart transplantation. A genetic etiology can be found in 20-35% of patients with DCM, especially in those with a family history of cardiomyopathy or sudden cardiac death at an early age. With advancements in genome sequencing, the understanding of genotype-phenotype relationships in DCM has expanded with over 60 genes implicated in the disease. Subsequently, these findings have increased adoption of genetic testing in the management of DCM, which has allowed for improved risk stratification and identification of at risk family members. In this review, we discuss the genetic evaluation of DCM with a focus on practical genetic testing considerations, genotype-phenotype associations, and insights into upcoming personalized therapies.

摘要

扩张型心肌病(DCM)是心力衰竭的常见病因,也是心脏移植的主要指征。20%至35%的DCM患者可发现遗传病因,尤其是那些有心肌病家族史或早年猝死家族史的患者。随着基因组测序技术的进步,对DCM基因型-表型关系的认识不断扩展,已有60多个基因与该病相关。随后,这些发现增加了基因检测在DCM管理中的应用,从而改善了风险分层并识别出有风险的家庭成员。在本综述中,我们将讨论DCM的基因评估,重点关注实际的基因检测考量因素、基因型-表型关联以及对即将到来的个性化治疗的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aba5/10512006/9f8ca387c582/gr1.jpg

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