遗传性心脏离子通道病的基因检测

Genetic testing for inheritable cardiac channelopathies.

作者信息

Szepesváry Eszter, Kaski Juan Pablo

机构信息

Clinical Fellow in the Inherited Cardiovascular Diseases Unit, Great Ormond Street Hospital, London.

Consultant Paediatric Cardiologist in the Inherited Cardiovascular Diseases Unit, Great Ormond Street Hospital, London WC1N 3JH.

出版信息

Br J Hosp Med (Lond). 2016 May;77(5):294-302. doi: 10.12968/hmed.2016.77.5.294.

DOI:10.12968/hmed.2016.77.5.294

PMID:27166108

Abstract

Cardiac channelopathies are linked to an increased risk of ventricular arrhythmia and sudden death. This article reviews the clinical characteristics and genetic basis of common cardiac ion-channel diseases, highlights some genotype-phenotype correlations, and summarizes genetic testing for inheritable cardiac channelopathies.

摘要

心脏离子通道病与室性心律失常和猝死风险增加有关。本文综述了常见心脏离子通道疾病的临床特征和遗传基础，强调了一些基因型与表型的相关性，并总结了遗传性心脏离子通道病的基因检测。