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长QT综合征:对心律失常机制的新见解。

Long QT syndrome: novel insights into the mechanisms of cardiac arrhythmias.

作者信息

Kass Robert S, Moss Arthur J

机构信息

Department of Pharmacology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, P&S 7-401, New York, New York 10032, USA.

出版信息

J Clin Invest. 2003 Sep;112(6):810-5. doi: 10.1172/JCI19844.

DOI:10.1172/JCI19844
PMID:12975462
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC193679/
Abstract

The congenital long QT syndrome is a rare disorder in which mutation carriers are at risk for polymorphic ventricular tachycardia and/or sudden cardiac death. Discovery and analysis of gene mutations associated with variants of this disorder have provided novel insight into mechanisms of cardiac arrhythmia and have raised the possibility of mutation-specific therapeutic intervention.

摘要

先天性长QT综合征是一种罕见疾病,突变携带者有发生多形性室性心动过速和/或心源性猝死的风险。与该疾病变异相关的基因突变的发现和分析为心律失常机制提供了新的见解,并提高了针对特定突变进行治疗干预的可能性。

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Exercise stress test amplifies genotype-phenotype correlation in the LQT1 and LQT2 forms of the long-QT syndrome.运动应激试验增强了长QT综合征LQT1和LQT2型的基因型-表型相关性。
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