短QT综合征新进展

胡金柱, 巨珍珍, 洪葵. 短QT综合征新进展[J]. 临床心血管病杂志, 2018, 34(12): 1159-1163. doi: 10.13201/j.issn.1001-1439.2018.12.004
引用本文: 胡金柱, 巨珍珍, 洪葵. 短QT综合征新进展[J]. 临床心血管病杂志, 2018, 34(12): 1159-1163. doi: 10.13201/j.issn.1001-1439.2018.12.004
HU Jinzhu, JU Zhenzhen, HONG Kui. Progress of short QT syndrome[J]. J Clin Cardiol, 2018, 34(12): 1159-1163. doi: 10.13201/j.issn.1001-1439.2018.12.004
Citation: HU Jinzhu, JU Zhenzhen, HONG Kui. Progress of short QT syndrome[J]. J Clin Cardiol, 2018, 34(12): 1159-1163. doi: 10.13201/j.issn.1001-1439.2018.12.004

短QT综合征新进展

  • 基金项目:

    江西省教育厅青年科学基金项目 (No:14189)

    江西省科技计划项目 (No:20141BBG70033)

    江西省卫生厅科技计划项目 (No:20141084)

详细信息
    通讯作者: 胡金柱,E-mail:hujinzhu1983@sina.com
  • 中图分类号: 541542.7

Progress of short QT syndrome

More Information
  • 短QT综合征 (Short QT Syndrome, SQTS), 是一种发生于非器质性心脏病的恶性心律失常, 表现为多形性室性心动过速及心室颤动, 引起反复晕厥、心脏骤停及猝死, 心电图以短QT间期为显著特征。虽然SQTS发病率较低, 但临床致死性极高, 值得关注和重视。
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  • [1]

    Wilde AAM, Amin A.Channelopathies, genetic testing and risk stratification[J].Int J Cardiol, 2017, 237:53-55.

    [2]

    Garcia-Elias A, Benito B.Ion Channel Disorders and Sudden Cardiac Death[J].Int J Mol Sci, 2018, 19 (3):E692.

    [3]

    Zipes DP, Camm AJ, Borggrefe M, et al.ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death:a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (writing committee to develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death):developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society[J].Circulation, 2006, 114 (10):e385-484.

    [4]

    Giustetto C, Di Monte F, Wolpert C, et al.Short QTsyndrome:clinical findings and diagnostic-therapeutic implications[J].Eur Heart J, 2006, 27 (20):2440-2447.

    [5]

    Schimpf R, Bauersfeld U, Gaita F, et al.Short QT syndrome:successful prevention of sudden cardiac death in an adolescent by implantable cardioverter-defibrillator treatment for primary prophylaxis[J].Heart Rhythm, 2005, 2 (4):416-417.

    [6]

    Pereira R, Campuzano O, Sarquella-Brugada G, et al.Short QT syndrome in pediatrics[J].Clin Res Cardiol, 2017, 106 (6):393-400.

    [7]

    Brugada R, Hong K, Dumaine R, et al.Sudden death associated with short-QT syndrome linked to mutations in HERG[J].Circulation, 2004, 109 (1):30-35.

    [8]

    Sun Y, Quan XQ, Fromme S, et al.A novel mutation in the KCNH2 gene associated with short QT syndrome[J].J Mol Cell Cardiol, 2011, 50 (3):433-441.

    [9]

    Redpath CJ, Green MS, Birnie DH, et al.Rapid genetic testing facilitating the diagnosis of short QT syndrome[J].Can J Cardiol, 2009, 25 (4):e133-135.

    [10]

    Harrell DT, Ashihara T, Ishikawa T, et al.Genotypedependent differences in age of manifestation and arrhythmia complications in short QT syndrome[J].Int J Cardiol, 2015, 190:393-402.

    [11]

    Itoh H, Sakaguchi T, Ashihara T, et al.A novel KC-NH2 mutation as a modifier for short QT interval[J].Int J Cardiol, 2009, 137 (1):83-85.

    [12]

    Bellocq C, van Ginneken AC, Bezzina CR, et al.Mutation in the KCNQ1 gene leading to the short QT-interval syndrome[J].Circulation, 2004, 109 (4):2394-2397.

    [13]

    Hong K, Piper DR, Diaz-Valdecantos A, et al.De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero[J].Cardiovasc Res, 2005, 68 (4):433-440.

    [14]

    Rhodes TE, Abraham RL, Welch RC, et al.Cardiac potassium channel dysfunction in sudden infant death syndrome[J].J Mol Cell Cardiol, 2008, 44:571-581.

    [15]

    Moreno C, Oliveras A, de la Cruz A.A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome[J].Cardiovasc Res, 2015, 107 (5):613-623.

    [16]

    Mazzanti A, Kanthan A, Monteforte N, et al.Novel insight into the natural history of short QT syndrome[J].J Am Coll Cardiol, 2014, 63 (10):1300-1308.

    [17]

    Rothenberg I, Piccini I, Wrobel E, et al.Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T)[J].Heart Rhythm Case Rep, 2016, 2 (4):521-529.

    [18]

    Priori SG, Pandit SV, Rivolta I, et al.A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene[J].Circ Res, 2005, 96 (5):800-807.

    [19]

    Hattori T, Makiyama T, Akao M, et al.A novel gainof-function KCNJ2 mutation associated with short-QTsyndrome impairs inward rectification of Kir2.1 currents[J].Cardiovasc Res, 2012, 93 (5):666-73.

    [20]

    Deo M, Ruan Y, Pandit SV, et al.KCNJ2 mutation in short QT syndrome 3results in atrial fibrillation and ventricular proarrhythmia[J].Proc Natl Acad Sci U SA, 2013, 110 (10):4291-4296.

    [21]

    Ambrosini E, Sicca F, Brignone MS, et al.Genetically induced dysfunctions of Kir2.1 channels:implications for short QT3 syndrome and autism-epilepsy phenotype[J].Hum Mol Genet, 2014, 23 (10):4875-4886.

    [22]

    Antzelevitch C, Pollevick GD, Cordeiro JM, et al.Lossof-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death[J].Circulation, 2007, 115 (4):442-449.

    [23]

    Templin C, Ghadri JR, Rougler JS, et al.Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)[J].Eur Heart J, 2011, 32 (10):1077-1088.

    [24]

    Hong K, Hu J, YU J, et al.Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation[J].Eur J Hum Genet, 2012, 20 (10):1189-1192.

    [25]

    Thorsen K, Dam VS, Kjaer-Sorensen K, et al.Loss-ofactivity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome[J].Nat Commun, 2017, 8 (10):1696-1696.

    [26]

    Extramiana F, Antzelevitch C.Amplified transmural dispersion of repolarization as the basis for arrhythmogenesis in a canine ventricular-wedge model of short-QT syndrome[J].Circulation, 2004, 110 (31):3661-3666.

    [27]

    Zhang H, Kharche S, Holden AV, et al.Repolarisation and vulnerability to re-entry in the human heart with short QT syndrome arising from KCNQ1 mutation——a simulation study[J].Prog Biophys Mol Biol, 2008, 96 (2):112-131.

    [28]

    Itoh H, Horie M, Ito M, et al.Arrhythmogenesis in the short-QT syndrome associated with combined HERG channel gating defects:a simulation study[J].Circ J, 2006, 70 (4):502-508.

    [29]

    Hassel D, Scholz EP, Trano N, et al.Deficient zebrafish ether-à-go-go-related gene channel gating causes short-QT syndrome in zebrafish reggae mutants[J].Circulation, 2008, 117 (7):866-875.

    [30]

    Giustetto C, Scrocco C, Schimpf R, et al.Usefulness of exercise test in the diagnosis of short QT syndrome[J].Europace, 2015, 17 (6):628-634.

    [31]

    Rautaharju PM, Zhou SH, Wong S, et al.Sex differences in the evolution of the electrocardiographic QTinterval with age[J].Can J Cardiol, 1992, 8 (6):690-695.

    [32]

    Gussak I, Brugada P, Brugada J, et al.Idiopathic short QT interval:a new clinical syndrome[J].Cardiology, 2000, 94 (1):99-102.

    [33]

    Reinig MG, Engel TR.The shortage of short QT intervals[J].Chest, 2007, 132 (2):246-249.

    [34]

    Gollob MH, Redpath CJ, Roberts JD.The short QTsyndrome:proposed diagnostic criteria[J].J Am Coll Cardiol, 2011, 57 (7):802-812.

    [35]

    吴志伟, 易柏林, 钱宗杰, 等.QT间期缩短与变异型心绞痛室性心律失常[J].临床心血管病杂志, 2017, 33 (1):61-64.

    [36]

    Priori SG, Wilde AA, Hori Mazzanti e M, et al.HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes:document endorsed by HRS, EHRA, and APHRS in May 2013and by AC-CF, AHA, PACES, and AEPC in June 2013[J].Heart Rhythm, 2013, 10 (15):1932-1963.

    [37]

    Villafa?e J, Atallah J, Gollob MH, et al.Long-term follow-up of a pediatric cohort with short QT syndrome[J].J Am Coll Cardiol, 2013, 61 (10):1183-1191.

    [38]

    Giustetto C Anttonen, Schimpf R, Mazzanti A, et al.Long-term follow-up of patients with short QT syndrome[J].J Am Coll Cardiol, 2011, 58 (5):587-595.

    [39]

    何方田, 尹小妹, 李成.短Q-T间期综合征3例[J].临床心血管病杂志, 2007, 23 (2):155-156.

    [40]

    Bjerregaard P.The diagnosis and management of short QT syndrome[J].Heart Rhythm, 2018, 15 (10):1261-1267.

    [41]

    Brugada P.Short QT syndrome and hydroquinidine:rare diseases and unavailable drugs[J].J Am Coll Cardiol, 2017, 70 (30):3016-3017.

    [42]

    Binda A, Rivolta I, Villa C, et al.A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1[J].Front Cell Neurosci, 2018, 12 (1):76-76.

    [43]

    郭继鸿.ICD一级预防面临的挑战[J].临床心血管病杂志, 2017, 33 (4):291-299.

    [44]

    Mazzanti A, Maragna R, Vacanti G, et al.Hydroquinidine prevents life-threatening arrhythmic events in patients with short QT syndrome[J].J Am Coll Cardiol, 2017, 70 (30):3010-3015.

    [45]

    朱文根, 王岑, 洪葵.心源性猝死的遗传变异研究进展[J].临床心血管病杂志, 2016, 32 (10):973-977.

    [46]

    Tülümen E, Giustetto C, Wolpert C, et al.PQ segment depression in patients with short QT syndrome:a novel marker for diagnosing short QT syndrome?[J].Heart Rhythm, 2014, 11 (10):1024-1030.

    [47]

    Luo C, Wang K, Zhang H.Modelling the effects of chloroquine on KCNJ2-linked short QT syndrome[J].Oncotarget, 2017, 8 (10):106511-106526.

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收稿日期:  2018-08-15

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