摘要
遗传性QT延长综合征(LQTS)是一种家族遗传性电紊乱性心脏病,1957年由Jervell Lange—Nielsen首先发现并报道。临床主要表现为晕厥和猝死,心电图表现为QT间期延长、尖端扭转型室性心动过速(室速)。近10余年,随着分子生物学和循证医学研究的进展,LQTS的分子基因学和临床研究日新月异,本文综述了LQTS的基因诊断和临床研究的最新进展。
出处
《中华心血管病杂志》
CAS
CSCD
北大核心
2008年第10期954-956,共3页
Chinese Journal of Cardiology
参考文献26
-
1Splawski I, Shen J, Timothy KW, et al. Spectrum of mutations in long QT syndrome genes. KVLQT1 ,HERG, SCN5A, KCNE1 and KCNE2. Circulation, 2000, 102 : 1178-1185.
-
2Zareba W, Moss AJ, Schwartz PJ, et al. Influence of genotype on the clinical course of the long QT syndrome. N Engl J Med, 1998, 339 : 960-965.
-
3Vohra J. The Long QT Syndrome. Heart Lung Circ, 2007, 16 :S5- S12.
-
4Ackerman MJ. Genotype-phenotype relationships in congenital long QT syndrome. J Electrocardiol, 2005, 38:64-68.
-
5李翠兰,胡大一,李运田,秦绪光,刘文玲,周金台,王吉云,李蕾,马志敏.76个长QT综合征先证者临床特征和治疗情况研究[J].中国心脏起搏与心电生理杂志,2004,18(6):414-418. 被引量:14
-
6Splawski I, Timothy KW, Sharpe LM, et al. Ca(Ⅴ) 1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell, 2004, 119 : 19-31.
-
7Vatta M, Ackerman M J, Ye B, et al. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation, 2006, 114:2104-2112.
-
8Medeiros-Domingo A, Kaku T, Tester DJ, et al. Encoded sodium channel 154 subunit in congenital long-QT syndrome. Circulation, 2007, 116: 134-142.
-
9Zhang L, Timothy KW, Vincent GM, et al. Spectrum of ST-T- wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation, 2000, 102:2849-2853.
-
10Zareba W, Moss AJ, Locati EH, et al. Modulating effects of age and gender on the clinical course of long QT syndrome by genotype. J Am Coll Cardiol, 2003, 42 : 103-109.
二级参考文献15
-
1Zhang L, Timothy KW, Vincent GM,et al. Spectrum of ST-T-wave patterns and repolarization parameters in congenital long QT syndrome: ECG findings identify genotypes[J]. Circulation ,2000,102(23):2 849
-
2Takenaka S, Kusano KF, Hisamatsu K, et al. Relatively benign clinical course in asymptomatic patients with Brugada-type electrocardiogram without family history of sudden death[J]. J Cardiovasc Electrophysiol,2001,12:2
-
3Priori SG, Napolitano C,Schwartz PJ. Low penetrance in the long QT syndrome.Clinical impact[J]. Circulation,1999, 99:529
-
4Moss AJ, Zareba W, Hall WJ, et al. Effectiveness and limitations of β-blocker therapy in congenital long QT syndrome[J]. Circulation, 2000,101:616
-
5Schwartz PJ, Locati EH, Moss AJ, et al. Left cardiac sympathetic denervation in the therapy of congenital long QT syndrome: A worldwide report[J]. Circulation,1991, 84:503
-
6Dorostkar PC, Eldar M, Belhassen B, et al. Long-term follow-up of patients with long QT syndrome treated with beta-blockers and continuous pacing[J]. Circulation,1999,100:2 431
-
7Schwartz PJ, Priori SG, Cerrone M, et al. Left cardiac sympathetic denervation in the management of high-risk patients affected by the long QT syndrome[J]. Circulation, 2004, 109:1 826
-
8Splawski I, Shen J, Timothy KW, et al. Spectrum of mutations in long QT syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2[J]. Circulation,2000,102:1 178
-
9Schwartz PJ, Priori SG. Long QT syndrome:Genotype-phenotype considerations. In:Zipes DP, Jalife J, eds. Cardiac electrophysiology: From cell to bedside[M]. 4th ed. Philadelphia: Saunders, 2004. 651-659
-
10Schwartz PJ, Moss AJ, Vincent GM, et al. Diagnostic criteria for long QT syndrome. An update[J]. Circulation, 1993,88:782
共引文献13
-
1吴正波,李文逸,谢连娣.从宗气不守探讨长QT综合征的中医病机[J].四川中医,2022,40(3):32-36. 被引量:1
-
2高东升,Robert Hamilton,Christine Chiu-man.儿童先天性长QT综合征患者的QT滞后现象[J].中国心脏起搏与心电生理杂志,2006,20(1):28-30. 被引量:1
-
3熊陈岭,郑芳,周新,万军,孙小波.急性心肌梗死心源性猝死KCNJ11基因第635位点的多态性[J].中国心脏起搏与心电生理杂志,2006,20(1):35-37.
-
4赵笑春.长Q-T综合征致尖端扭转型室速2例报告[J].青海医药杂志,2006,36(3):59-60.
-
5李春,杨小芳.26例获得性间歇依赖型长QT间期综合征并发尖端扭转型室速的护理[J].齐齐哈尔医学院学报,2008,29(10):1243-1244. 被引量:1
-
6薛小临,杨海涛,孙超峰,张爱峰,王东琦,崔长琮.16个先天性长QT综合征先证者临床分析[J].中华心律失常学杂志,2008,12(5):345-347. 被引量:3
-
7万春霞,曲晓燕,张忠珍,杨英.先天性长QT综合征误诊癫痫10年一例分析[J].中华心律失常学杂志,2011,15(3):233-234. 被引量:1
-
8丁世芳,向晋涛.国内先天性长QT综合征的临床研究状况[J].中国心脏起搏与心电生理杂志,2011,25(5):382-386. 被引量:2
-
9元如林,乐励华,刘丽萍,刘南根.数学实验课的教学模式研究[J].工科数学,2000,16(2):72-74. 被引量:25
-
10熊琴梅,洪葵,曹玲玲.性别与离子通道[J].中国心脏起搏与心电生理杂志,2013,27(3):196-198.
同被引文献16
-
1王鸿,耿丹明,李慧忠,涂学军.超声心动图对胎儿室上性心动过速的诊断及宫内治疗疗效评价[J].中华医学超声杂志(电子版),2007,4(3):150-152. 被引量:9
-
2姚维妙,黄荷凤.超声对胚胎及胎儿安全性研究新进展[J].国外医学(计划生育.生殖健康分册),2006,25(3):147-150. 被引量:3
-
3Yang Y, Yang Y, Liang B, et al. Identification of a Kir3.4 mutation in congenital long QT syndrome. Am J Hum Genet, 2010; 86:827-880.
-
4Schwartz PJ, Moss A J, Vincent GM, et al. Diagnostic criteria for the long QT syndrome: an update. Circulation, 1993;88:782-784.
-
5Zhang L, Timothy KW, Vincent GM, et al. Spectrum of ST-T wave patterns and repolarization parameters in congenital long OT syndrome: ECG findings identify genotypes. Circulation, 2000; 102: 2-849.
-
6Nemec J, Buneova M, Bulkova V, et al. Heart rate dependence of QT interval duration: differences among congenital long QT syndrome subtypes. J Cardiovasc Electrophysiol, 2004; 15:550-556.
-
7Daubert JP, Zareba W, Rosero SZ, et. al. Role of implantable cardiovert defibrillator therapy in patients with long QT syndrome. Am Heart J, 2007;153:S53-58.
-
8Goldenberg I, Horr S, Moss A J, et al. Risk of life-threatening cardiac events in patients with genotype-confirmed long QT syndrome and a normal range QTe. J Am Cardiol, 2011;57:51-59.
-
9De Bruin ML, Pettersson M, Meyboom RH, et al. Anti-HERGactivity and the risk of drug-induced arrhythmias and suddendeath. Eur Heart J, 2005, 26(6) : 590-597.
-
10Schwartz PJ, Stramba-Badiale M, Crotti L, et al. Prevalence ofthe congenital long-QT syndrome. Cirulation, 2009, 120 ( 18):1761-1767.
引证文献2
-
1黄立萍,卢慧,郭冰丽,王莹琦,洪丽,丛培鑫,刘金秋,高连君,杨延宗.先天性长QT综合征的动态心电图监测[J].临床心电学杂志,2012,21(3):180-182.
-
2耿丹明,王鸿,吴琳琅,王玉新.多普勒超声心动描记术检测胎儿机械性QT间期[J].中国医学影像技术,2013,29(7):1147-1150.
-
1赵敏,李晶玮.长QT综合征研究进展[J].中国现代医药杂志,2007,9(10):137-139. 被引量:1
-
2张莉,杨琳.遗传性QT延长综合征的研究进展[J].中国心脏起搏与心电生理杂志,1997,11(1):39-41. 被引量:11
-
3卢颖如,胡大一.遗传性QT延长综合征的遗传学类型与临床治疗[J].国外医学(心血管疾病分册),2002,29(5):276-278. 被引量:2
-
4宋海燕(摘译).应激性生活事件和长期精神压力对遗传性QT延长综合征患者发生心律失常具有影响[J].中华医学信息导报,2010,25(17):13-13.
-
5Schwartz P.J.,Spazzolini C.,Crotti L.,吴晓燕.Jervell-Lange-Nielsen综合征:自然病程史、分子基础和临床结果[J].世界核心医学期刊文摘(心脏病学分册),2006,0(7):26-27.
-
6刘淑梅,刘桂馨,肖成贤,李俊英.Jervell Lange-Nielsen综合征[J].中西医结合心脑血管病杂志,2003,1(7):403-404.
-
7李远方.Jervell-Lange—Nielsen综合征[J].国际耳鼻咽喉头颈外科杂志,2014,38(6):335-337.
-
8高元丰,李翠兰.Jervell和Lange-Nielsen综合征发病机制与治疗策略[J].心血管病学进展,2012,33(4):445-448. 被引量:1
-
9刘文玲,胡大一,李萍,李翠兰,秦绪光,李运田,李蕾,李志明,董玮,戚豫,王擎.KCNQ1单一杂合突变导致Jervell-Lange-Nielsen综合征[J].中华心血管病杂志,2005,33(1):41-44. 被引量:2
-
10朱刚艳,黄从新,江洪.心律失常的分子基础与治疗研究进展[J].中国心脏起搏与心电生理杂志,2001,15(3):210-211. 被引量:1