Sudden cardiac death without structural heart disease: Update on the long QT and Brugada syndromes

被引:18
作者
Goldenberg I. [1 ]
Moss A.J. [1 ]
Zareba W. [1 ]
机构
[1] Heart Research Follow-up Program, University of Rochester Medical Center, Rochester, NY 14642
关键词
Brugada Syndrome; QBUJFOUT XJUI; BTTPDJBUFE XJUI; IJHI SJTL; Normal Cardiac Morphology;
D O I
10.1007/s11886-005-0088-1
中图分类号
学科分类号
摘要
The long QT syndrome (LQTS) and the Brugada syndrome (BrS) are the most common genetic causes of malignant ventricular arrhythmias and sudden cardiac death in young patients with normal cardiac morphology. To date, more than 250 different mutations in seven genes have been identified as causing LQTS, whereas the only gene identified to be linked to BrS is SCN5A. In both syndromes, gene-specific mutations have been shown to be associated with specific phenotypic expressions. Risk stratification in LQTS and BrS is based mainly upon a constellation of electrocardiographic findings and a history of prior symptoms. In patients identified as high risk for arrhythmic mortality, the implantable cardioverter defibrillator is the most effective treatment and has been shown to provide near-complete protection during long-term follow-up. Copyright © 2005 by Current Science Inc.
引用
收藏
页码:349 / 356
页数:7
相关论文
共 55 条
[1]  
Splawski I., Shen J., Timothy K.W., Et al., Spectrum of mutations in long-QT syndrome genes KVLQT1, HERG, SCN5A, KCNE1, and KCNE2, Circulation, 102, pp. 1178-1185, (2000)
[2]  
Wang Q., Shen J., Splawski I., Et al., SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome, Cell, 80, pp. 805-811, (1995)
[3]  
Sanguinetti M.C., Jiang C., Curran M.E., Et al., 1995. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel, Cell, 81, pp. 299-307, (1995)
[4]  
Wang Q., Curran M.E., Splawski I., Et al., Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias, Nat. Genet., 12, pp. 17-23, (1996)
[5]  
Westenskow P., Splawski I., Timothy K.W., Et al., Compound mutations: A common cause of severe long-QT syndrome, Circulation, 109, pp. 1834-1841, (2004)
[6]  
Delisle B.P., Anson B.D., Rajamani S., January C.T., Biology of cardiac arrhythmias: Ion channel protein trafficking, Circ. Res., 94, pp. 1418-1428, (2004)
[7]  
Chen Q., Kirsch G.E., Zhang D., Et al., Genetic basis and molecular mechanisms for idiopathic ventricular fibrillation, Nature, 392, pp. 293-296, (1998)
[8]  
Tan H.L., Bezzina C.R., Smits J.P., Et al., Genetic control of sodium channel function, Cardiovasc. Res., 57, pp. 961-973, (2003)
[9]  
Schulze-Bahr E., Eckardt L., Breithardt G., Et al., Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease, Hum. Mutat., 21, pp. 651-652, (2003)
[10]  
Weiss R., Barmada M.M., Nguyen T., Et al., Clinical and molecular heterogeneity in the Brugada syndrome: A novel gene locus on chromosome 3, Circulation, 105, pp. 707-713, (2002)