将基因检测纳入心肌病诊断路径：欧洲心脏病学会心血管基因组学委员会的临床共识声明

Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics.

作者信息

Elliott Perry, Schunkert Heribert, Bondue Antoine, Behr Elijah, Carrier Lucie, Van Duijn Cornelia, García-Pavía Pablo, van der Harst Pim, Kavousi Maryam, Loeys Bart, Rocha Lopes Luis, Pinto Yigal, Di Toro Alessandro, Thum Thomas, Kääb Stefan, Urtis Mario, Arbustini Eloisa

机构信息

Department of Inherited Cardiovascular Conditions, Barts Heart Centre, St Bartholomew's Hospital, London, UK.

Institute for Cardiovascular Science, University College London, London, United Kingdom.

出版信息

Eur Heart J. 2025 Jan 21;46(4):344-353. doi: 10.1093/eurheartj/ehae747.

DOI:10.1093/eurheartj/ehae747

PMID:39673718

Abstract

In the modern era, cardiologists managing patients and families with cardiomyopathies need to be familiar with every stage of the diagnostic pathway from clinical phenotyping to the prescription and interpretation of genetic tests. This clinical consensus statement from the ESC Council for Cardiovascular Genomics aims to promote the integration of genetic testing into routine cardiac care of patients with cardiomyopathies, as recommended in the 2023 ESC guidelines for cardiomyopathies. The document describes the types of genetic tests currently available and provides advice on their prescription and for counselling after the return of genetic findings, including the approach in patients and families with variants of unknown significance.

摘要

在现代，管理患有心肌病的患者及其家属的心脏病专家需要熟悉从临床表型分析到基因检测的处方及解读的诊断流程的每个阶段。欧洲心脏病学会心血管基因组学委员会的这份临床共识声明旨在促进基因检测融入心肌病患者的常规心脏护理，这也是2023年欧洲心脏病学会心肌病指南所推荐的。该文件描述了目前可用的基因检测类型，并就其处方以及基因检测结果返回后的咨询提供建议，包括对具有意义未明变异的患者及其家属的处理方法。