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.
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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本文引用的文献
1
Effect of current flow on the membrane potential of cardiac muscle.电流对心肌膜电位的影响。
J Physiol. 1951 Oct 29;115(2):227-36. doi: 10.1113/jphysiol.1951.sp004667.
2
3
A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN.一种新的儿童家族性心脏综合征。
J Ir Med Assoc. 1964 Apr;54:103-6.
4
Congenital deaf-mutism, prolonged QT interval, syncopal attacks and sudden death.先天性聋哑、QT间期延长、晕厥发作和猝死。
N Engl J Med. 1958 Aug 28;259(9):412-7. doi: 10.1056/NEJM195808282590902.
5
Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death.先天性聋哑、伴有Q-T间期延长的功能性心脏病及猝死。
Am Heart J. 1957 Jul;54(1):59-68. doi: 10.1016/0002-8703(57)90079-0.
6
Implantable cardioverter defibrillator in high-risk long QT syndrome patients.高危长QT综合征患者植入式心脏复律除颤器
J Cardiovasc Electrophysiol. 2003 Apr;14(4):337-41. doi: 10.1046/j.1540-8167.2003.02545.x.
7
Calcium and the heart: a question of life and death.钙与心脏：生死攸关的问题。
J Clin Invest. 2003 Mar;111(5):597-600. doi: 10.1172/JCI18067.
8
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。
Circulation. 2003 Feb 18;107(6):838-44. doi: 10.1161/01.cir.0000048142.85076.a2.
9
Leucine/isoleucine zipper coordination of ion channel macromolecular signaling complexes in the heart. Roles in inherited arrhythmias.心脏中离子通道大分子信号复合物的亮氨酸/异亮氨酸拉链协调作用。在遗传性心律失常中的作用。
Trends Cardiovasc Med. 2003 Feb;13(2):52-6. doi: 10.1016/s1050-1738(02)00211-6.
10
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death.锚蛋白B突变导致4型长QT综合征心律失常和心源性猝死。
Nature. 2003 Feb 6;421(6923):634-9. doi: 10.1038/nature01335.
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