国际《遗传性心脏离子通道病与心肌病基因检测专家共识》中心肌病基因检测介绍

Introduction on the international consensus statement about the part of genetic testing for cardiomyopathies

最近,美国节律学会和欧洲心脏节律学会联合颁布了国际首个《遗传性心脏离子通道病与心肌病基因检测专家共识》,该共识首次系统评估基因检测在遗传性心脏疾病中的应用价值,重点阐述基因检测对13种不同心脏疾病的作用,及每种疾病的基因检测结果对诊断、治疗和预后的影响。该共识对心脏科临床医生与科研工作者具有很好的指导意义。本文就心肌病基因检测部分进行单独介绍。

The Heart Rhythm Society and the European Heart Rhythm Association recently published the first international consensus statement about the genetic testing for the channelopathies and cardiomyopathies.This consensus statement systematically evaluated the use of genetic testing for heritable cardiac diseases,focused on the role of genetic testing for the 13 distinct entities and the impact of genetic test result for each entity on the relative diagnosis,therapy and prognosis.The statement presented a good guidance for the cardiologist and researchers.This article will mainly introduce the part of genetic testing for cardiomyopathies.