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遗传性心脏病咨询和检测:欧洲心脏病学会心肌和心包疾病工作组立场声明。

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.

机构信息

UPMC Univ Paris 6, AP-HP, Hôpital Pitié-Salpêtrière, Centre de Référence Maladies cardiaques héréditaires, Paris, France.

出版信息

Eur Heart J. 2010 Nov;31(22):2715-26. doi: 10.1093/eurheartj/ehq271. Epub 2010 Sep 7.

DOI:10.1093/eurheartj/ehq271
PMID:20823110
Abstract

Advances in molecular genetics present new opportunities and challenges for cardiologists who manage patients and families with cardiomyopathies. The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general issues related to genetic counselling, family screening and genetic testing in families with a cardiomyopathy, and to provide key messages and suggestions for clinicians involved in their management.

摘要

分子遗传学的进步为管理心肌病患者和家庭的心脏病专家带来了新的机遇和挑战。本欧洲心脏病学会心肌和心包疾病工作组立场声明的目的是回顾与心肌病家族中的遗传咨询、家族筛查和基因检测相关的一般问题,并为参与其管理的临床医生提供关键信息和建议。

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