心脏离子通道病基础研究给临床应用带来的获益

周琼琼; 洪葵

doi:10.13201/j.issn.1001-1439.2014.07.004

心脏离子通道病基础研究给临床应用带来的获益

周琼琼¹,
洪葵^1,2, ,

- 1 南昌大学第二附属医院心内科(南昌, 330006);
- 2 江西省医学遗传和基因治疗研究所
基金项目:
国家自然科学基金资助 (No:81160023)

详细信息

通讯作者: 洪葵,E-mail:hongkui88@163.com

中图分类号: R542.2

收稿日期: 2013-04-22

Channelopathies:benefits from basic research to clinical management

ZHOU Qiongqiong¹,
HONG Kui^1,2, ,

- 1 Cardiovascular Department, the Second Affiliated Hospital of Nanchang University, Nanchang, 330006, China;
- 2 Medical Genetic and Gene Therapy Research Institution in Jiangxi Province

More Information

Corresponding author: HONG Kui, E-mail: hongkui88@163.com

Received Date: 22 April 2013

摘要

摘要: 心脏离子通道疾病的分子研究已取得瞩目成效, 已证实绝大多数离子通道疾病与基因变异相关。基因检测结果结合临床表型决定临床用药, 给这类患者带来了生存的希望。本文就最近的相关基础和临床研究进展, 对常见而重要的离子通道病的机制与临床治疗间的相关性进行介绍。
- 心脏离子通道疾病 /
- 基础研究 /
- 临床应用
Abstract: It has been susggeted that great advances have been made in molecular study of channelopathies and the majority of the disease have been associateid with gene mutations.Combining genetic testing results with clinical phenotype to guide the regimen improve the efficiacy of treatment.This review summaries the progression in both basic and clinical research of channelopathies and introduces the relation between the phathogenesis and clinical management in several common channelopathies.
- channelopathies /
- basice research /
- clinical application

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参考文献(17)

[1]	WWBSTER G, BERUL C I.An update on channelopathies[J].Circulation, 2013, 127:126-140.
[2]	TESTER D J, WILL M L, HAGLUND C M, et al.Effect of clinical phenotype on yield of long QT syndrome genetic testing[J].J Am Coll Cardiol, 2006, 47:764-768.
[3]	CROTTI L, MONTI M C, INSOLIA R, et al.NOS1AP is a genetic modifier of the long-QT syndrome[J].Circulation, 2009, 120:1657-1663.
[4]	GEMMA L W, WARD G M, DETTMER M M, et al.β-Blockers protect against dispersion of repolarization during exercise in congenital long-QT syndrome type 1[J].J Cardiovasc Electrophysiol, 2011, 22:1141-1146.
[5]	CHOCKALINGAM P, CROTTI L, GIRARDENGO G, et al.Not all beta-blockers are equal in the management of long QT syndrome type 1and 2:Higher recurrence of events under metoprolol[J].J Am Coll Cardiol, 2012, 60:2092-2099.
[6]	BANKSTON J R, KASS R S.Molecular determinants of local anesthetic action of beta-blocking drugs:Implications for therapeutic management of long QT syndrome variants3[J].J Mol Cell Cardiol, 2010, 48:246-253.
[7]	VOS M A, VERDUYN S C, GORGELS A P, et al.Reproducible induction of early after depolarizations and torsade de pointes arrhythmias by dsotalol and pacing in dogs with chronic atrioventricular block[J].Circulation, 1995, 91:864-872.
[8]	EPSTEIN A E, DIMARCO J P, ELLENBOGEN K A, et al.American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices)[J].Circulation, 2008, 117:e350-e408.
[9]	VISKIN S.The QT interval:too long, too short or just right[J].Heart Rhythm, 2009, 6:711-715.
[10]	PRIORI S G.The fifteen years of discoveries that shaped molecular electrophysiology:time for appraisal[J].Circ Res, 2010, 107:451-456.
[11]	LAHAT H, ELDAR M, LEVY-NISSENBAUM E, et al.Autosomal recessive catecholamine-or exerciseinduced polymorphic ventricular tachycardia:clinical features and assignment of the disease gene to chromosome 1p13-21[J].Circulation, 2001, 103:2822-2827.
[12]	VAN DER WERF C, KANNANKERIL P J, SACHER F, et al.Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia[J].J Am Coll Cardiol, 2011, 57:2244-2254.
[13]	WILDE A A, BHUIYAN Z A, CROTTI L, et al.Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia[J].N Engl J Med, 2008, 358:2024-2029.
[14]	ANTZELEVITCH C, BRUGADA P, BORGGREFE M et al.Brugada syndrome:report of the second consensus conference:endorsed by the Heart Rhythm Society and the European Heart Rhythm Association[J].Circulation, 2005, 111:659-670.
[15]	BAYES DE L A, BRUGADA J, BARANCHUK A, et al.Current electrocardiographic criteria for diagnosis of Brugada pattern:a consensus report[J].J Electrocardiol, 2012, 45:433-432.
[16]	MARON B J, ZIPES D P.Recommendations for competitive athletes with cardiovascular abnormalitiesGeneral Considerations[J].J Am Coll Cardio, 2005, 45, 1318-1321.
[17]	ACKERMAN M J, PRIORI S G, WILLEMS S, et al.Heart Rhythm Society (HRS);European Heart Rhythm Association (EHRA).HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies:this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)[J].Europace, 2011, 13:1077-1109.