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Volumn 12, Issue 5, 2010, Pages 260-267

Genetics and cardiac channelopathies

Author keywords

Arrhythmias; Genetics; Ion channels; Sudden cardiac death

Indexed keywords

BRUGADA SYNDROME; CALCIUM CHANNELOPATHY; CARDIAC CHANNELOPATHY; CARDIOVASCULAR DISEASE; DISEASE ASSOCIATION; GENETIC SCREENING; HEART ATRIUM FIBRILLATION; HUMAN; LONG QT SYNDROME; MORTALITY; POLYMORPHIC VENTRICULAR TACHYCARDIA; POTASSIUM CHANNELOPATHY; PROGRESSIVE CARDIAC CONDUCTION DEFECT; QT INTERVAL; REVIEW; SHORT QT SYNDROME; SODIUM CHANNELOPATHY; SUDDEN DEATH; TIMOTHY SYNDROME;

EID: 77952553671     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181d81636     Document Type: Review
Times cited : (80)

References (103)
  • 1
    • 0036461632 scopus 로고    scopus 로고
    • Task force on sudden cardiac death, European Society of Cardiology
    • Priori SG, Aliot E, Blomstrom-Lundqvist C, et al. Task force on sudden cardiac death, European Society of Cardiology. Europace 2002;4:3-18.
    • (2002) Europace , vol.4 , pp. 3-18
    • Priori, S.G.1    Aliot, E.2    Blomstrom-Lundqvist, C.3
  • 2
    • 0034487308 scopus 로고    scopus 로고
    • Idiopathic short QT interval: A new clinical syndrome?
    • Gussak I, Brugada P, Brugada J, et al. Idiopathic short QT interval: a new clinical syndrome? Cardiology 2000;94:99-102.
    • (2000) Cardiology , vol.94 , pp. 99-102
    • Gussak, I.1    Brugada, P.2    Brugada, J.3
  • 3
    • 33748575897 scopus 로고    scopus 로고
    • 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
    • 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. Circulation 2006;114:e385-e484.
    • (2006) Circulation , vol.114
    • Zipes, D.P.1    Camm, A.J.2    Borggrefe, M.3
  • 4
    • 0034622658 scopus 로고    scopus 로고
    • Sudden cardiac death with apparently normal heart
    • Chugh SS, Kelly KL, Titus JL. Sudden cardiac death with apparently normal heart. Circulation 2000;102:649-654.
    • (2000) Circulation , vol.102 , pp. 649-654
    • Chugh, S.S.1    Kelly, K.L.2    Titus, J.L.3
  • 5
    • 2342440911 scopus 로고    scopus 로고
    • Postmortem molecular screening in unexplained sudden death
    • Chugh SS, Senashova O, Watts A, et al. Postmortem molecular screening in unexplained sudden death. J Am Coll Cardiol 2004;43:1625-1629.
    • (2004) J Am Coll Cardiol , vol.43 , pp. 1625-1629
    • Chugh, S.S.1    Senashova, O.2    Watts, A.3
  • 7
    • 33646693410 scopus 로고    scopus 로고
    • Contemporary definitions and classification of the cardiomyopathies: An American Heart Association Scientific Statement from the Council on Clinical Cardiology
    • Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention
    • Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006;113:1807-1816.
    • (2006) Circulation , vol.113 , pp. 1807-1816
    • Maron, B.J.1    Towbin, J.A.2    Thiene, G.3
  • 8
    • 0036801529 scopus 로고    scopus 로고
    • Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation
    • Grant AO, Carboni MP, Neplioueva V, et al. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest 2002;110:1201-1209.
    • (2002) J Clin Invest , vol.110 , pp. 1201-1209
    • Grant, A.O.1    Carboni, M.P.2    Neplioueva, V.3
  • 9
    • 0242317397 scopus 로고    scopus 로고
    • Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
    • Benson DW, Wang DW, Dyment M, et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 2003;112:1019-1028.
    • (2003) J Clin Invest , vol.112 , pp. 1019-1028
    • Benson, D.W.1    Wang, D.W.2    Dyment, M.3
  • 10
    • 0029097799 scopus 로고
    • Molecular mechanism for an inherited cardiac arrhythmia
    • Bennett PB, Yazawa K, Makita N, George AL Jr. Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995;376:683-685.
    • (1995) Nature , vol.376 , pp. 683-685
    • Bennett, P.B.1    Yazawa, K.2    Makita, N.3    George Jr., A.L.4
  • 11
    • 0035931932 scopus 로고    scopus 로고
    • A sodium-channel mutation causes isolated cardiac conduction disease
    • Tan HL, Bink-Boelkens MT, Bezzina CR, et al. A sodium-channel mutation causes isolated cardiac conduction disease. Nature 2001;409:1043-1047.
    • (2001) Nature , vol.409 , pp. 1043-1047
    • Tan, H.L.1    Bink-Boelkens, M.T.2    Bezzina, C.R.3
  • 13
    • 0032546384 scopus 로고    scopus 로고
    • Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    • Chen Q, Kirsch GE, Zhang D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998;392:293-296.
    • (1998) Nature , vol.392 , pp. 293-296
    • Chen, Q.1    Kirsch, G.E.2    Zhang, D.3
  • 14
    • 0029847602 scopus 로고    scopus 로고
    • Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions
    • The SADS Foundation Task Force on LQTS
    • Roden DM, Lazzara R, Rosen M, Schwartz PJ, Towbin J, Vincent GM. Multiple mechanisms in the long-QT syndrome. Current knowledge, gaps, and future directions. The SADS Foundation Task Force on LQTS. Circulation 1996;94:1996-2012.
    • (1996) Circulation , vol.94 , pp. 1996-2012
    • Roden, D.M.1    Lazzara, R.2    Rosen, M.3    Schwartz, P.J.4    Towbin, J.5    Vincent, G.M.6
  • 15
    • 0346727397 scopus 로고    scopus 로고
    • Sudden death associated with short-QT syndrome linked to mutations in HERG
    • Brugada R, Hong K, Dumaine R, et al. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation 2004;109: 30-35.
    • (2004) Circulation , vol.109 , pp. 30-35
    • Brugada, R.1    Hong, K.2    Dumaine, R.3
  • 16
    • 20844438344 scopus 로고    scopus 로고
    • Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations
    • Hong K, Brugada J, Oliva A, et al. Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. Circulation 2004;110:3023-3027.
    • (2004) Circulation , vol.110 , pp. 3023-3027
    • Hong, K.1    Brugada, J.2    Oliva, A.3
  • 17
    • 7044220420 scopus 로고    scopus 로고
    • Magnetic resonance imaging findings in patients with Brugada syndrome
    • Papavassiliu T, Wolpert C, Fluchter S, et al. Magnetic resonance imaging findings in patients with Brugada syndrome. J Cardiovasc Electrophysiol 2004;15:1133-1138.
    • (2004) J Cardiovasc Electrophysiol , vol.15 , pp. 1133-1138
    • Papavassiliu, T.1    Wolpert, C.2    Fluchter, S.3
  • 18
    • 27844591399 scopus 로고    scopus 로고
    • Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: A combined electrophysiological, genetic, histopathologic, and computational study
    • Coronel R, Casini S, Koopmann TT, et al. Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study. Circulation 2005;112:2769-2777.
    • (2005) Circulation , vol.112 , pp. 2769-2777
    • Coronel, R.1    Casini, S.2    Koopmann, T.T.3
  • 20
    • 67651102927 scopus 로고    scopus 로고
    • Structural myocardial abnormalities in asymptomatic family members with Brugada syndrome and SCN5A gene mutation
    • Frustaci A, Russo MA, Chimenti C. Structural myocardial abnormalities in asymptomatic family members with Brugada syndrome and SCN5A gene mutation. Eur Heart J 2009;30:1763.
    • (2009) Eur Heart J , vol.30 , pp. 1763
    • Frustaci, A.1    Russo, M.A.2    Chimenti, C.3
  • 21
    • 64249126720 scopus 로고    scopus 로고
    • Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation
    • Alders M, Koopmann TT, Christiaans I, et al. Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. Am J Hum Genet 2009;84:468-476.
    • (2009) Am J Hum Genet , vol.84 , pp. 468-476
    • Alders, M.1    Koopmann, T.T.2    Christiaans, I.3
  • 22
    • 0036471801 scopus 로고    scopus 로고
    • Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome
    • Vatta M, Dumaine R, Varghese G, et al. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet 2002;11:337-345.
    • (2002) Hum Mol Genet , vol.11 , pp. 337-345
    • Vatta, M.1    Dumaine, R.2    Varghese, G.3
  • 23
    • 0037065845 scopus 로고    scopus 로고
    • Clinical and molecular heterogeneity in the Brugada syndrome: A novel gene locus on chromosome 3
    • Weiss R, Barmada MM, Nguyen T, et al. Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. Circulation 2002;105:707-713.
    • (2002) Circulation , vol.105 , pp. 707-713
    • Weiss, R.1    Barmada, M.M.2    Nguyen, T.3
  • 24
    • 0003096674 scopus 로고    scopus 로고
    • Cardiac conduction defects associate with mutations in SCN5A
    • Schott JJ, Alshinawi C, Kyndt F, et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999;23:20-21.
    • (1999) Nat Genet , vol.23 , pp. 20-21
    • Schott, J.J.1    Alshinawi, C.2    Kyndt, F.3
  • 26
    • 0032741905 scopus 로고    scopus 로고
    • Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent
    • Dumaine R, Towbin JA, Brugada P, et al. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res 1999;85:803-809.
    • (1999) Circ Res , vol.85 , pp. 803-809
    • Dumaine, R.1    Towbin, J.A.2    Brugada, P.3
  • 27
    • 0035903135 scopus 로고    scopus 로고
    • Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes
    • Rivolta I, Abriel H, Tateyama M, et al. Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. J Biol Chem 2001;276: 30623-30630.
    • (2001) J Biol Chem , vol.276 , pp. 30623-30630
    • Rivolta, I.1    Abriel, H.2    Tateyama, M.3
  • 28
    • 0037066036 scopus 로고    scopus 로고
    • Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: A simulation study of mechanism
    • Clancy CE, Rudy Y. Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism. Circulation 2002;105:1208-1213.
    • (2002) Circulation , vol.105 , pp. 1208-1213
    • Clancy, C.E.1    Rudy, Y.2
  • 29
    • 33750731284 scopus 로고    scopus 로고
    • Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome
    • Cordeiro JM, Barajas-Martinez H, Hong K, et al. Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome. Circulation 2006;114:2026-2033.
    • (2006) Circulation , vol.114 , pp. 2026-2033
    • Cordeiro, J.M.1    Barajas-Martinez, H.2    Hong, K.3
  • 30
    • 33747146463 scopus 로고    scopus 로고
    • SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene
    • Poelzing S, Forleo C, Samodell M, et al. SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation 2006;114:368-376.
    • (2006) Circulation , vol.114 , pp. 368-376
    • Poelzing, S.1    Forleo, C.2    Samodell, M.3
  • 31
    • 84944282688 scopus 로고
    • Sudden death among Southeast Asian refugees. An unexplained nocturnal phenomenon
    • Baron RC, Thacker SB, Gorelkin L, Vernon AA, Taylor WR, Choi K. Sudden death among Southeast Asian refugees. An unexplained nocturnal phenomenon. JAMA 1983;250:2947-2951.
    • (1983) JAMA , vol.250 , pp. 2947-2951
    • Baron, R.C.1    Thacker, S.B.2    Gorelkin, L.3    Vernon, A.A.4    Taylor, W.R.5    Choi, K.6
  • 32
    • 33644872001 scopus 로고    scopus 로고
    • Common sodium channel promoter haplotype in Asian subjects underlies variability in cardiac conduction
    • Bezzina CR, Shimizu W, Yang P, et al. Common sodium channel promoter haplotype in Asian subjects underlies variability in cardiac conduction. Circulation 2006;113:338-344.
    • (2006) Circulation , vol.113 , pp. 338-344
    • Bezzina, C.R.1    Shimizu, W.2    Yang, P.3
  • 33
    • 31744450111 scopus 로고    scopus 로고
    • The prevalence and prognosis of a Brugada-type electrocardiogram in a population of middle-aged Japanese-American men with follow-up of three decades
    • Ito H, Yano K, Chen R, He Q, Curb JD. The prevalence and prognosis of a Brugada-type electrocardiogram in a population of middle-aged Japanese-American men with follow-up of three decades. Am J Med Sci 2006;331:25-29.
    • (2006) Am J Med Sci , vol.331 , pp. 25-29
    • Ito, H.1    Yano, K.2    Chen, R.3    He, Q.4    Curb, J.D.5
  • 34
    • 36048965546 scopus 로고    scopus 로고
    • Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome
    • Van Norstrand DW, Valdivia CR, Tester DJ, et al. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation 2007;116:2253-2259.
    • (2007) Circulation , vol.116 , pp. 2253-2259
    • Van Norstrand, D.W.1    Valdivia, C.R.2    Tester, D.J.3
  • 36
    • 45749090058 scopus 로고    scopus 로고
    • Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans
    • Watanabe H, Koopmann TT, Le Scouarnec S, et al. Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest 2008;118:2260-2268.
    • (2008) J Clin Invest , vol.118 , pp. 2260-2268
    • Watanabe, H.1    Koopmann, T.T.2    Le Scouarnec, S.3
  • 37
    • 69549145477 scopus 로고    scopus 로고
    • A mutation in the b3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype
    • Hu D, Barajas-Martinez H, Burashnikov E, et al. A mutation in the b3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ Cardiovasc Genet. 2009;2:270-278.
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 270-278
    • Hu, D.1    Barajas-Martinez, H.2    Burashnikov, E.3
  • 38
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    • Wang Q, Shen J, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995;80:805-811.
    • (1995) Cell , vol.80 , pp. 805-811
    • Wang, Q.1    Shen, J.2    Splawski, I.3
  • 40
    • 0026666322 scopus 로고
    • Clinical aspects of the idiopathic long QT syndrome
    • Moss AJ, Robinson JL. Clinical aspects of the idiopathic long QT syndrome. Ann N YAcadSci 1992;644:103-111.
    • (1992) Ann N YAcadSci , vol.644 , pp. 103-111
    • Moss, A.J.1    Robinson, J.L.2
  • 41
    • 0026075868 scopus 로고
    • The long QT interval syndrome. A Rosetta stone for sympathetic related ventricular tachyarrhythmias
    • Zipes DP. The long QT interval syndrome. A Rosetta stone for sympathetic related ventricular tachyarrhythmias. Circulation 1991;84:1414-1419.
    • (1991) Circulation , vol.84 , pp. 1414-1419
    • Zipes, D.P.1
  • 42
    • 48149091056 scopus 로고    scopus 로고
    • Cellular basis of drug-induced torsades de pointes
    • Roden DM. Cellular basis of drug-induced torsades de pointes. Br J Pharmacol 2008;154:1502-1507.
    • (2008) Br J Pharmacol , vol.154 , pp. 1502-1507
    • Roden, D.M.1
  • 43
    • 34447307435 scopus 로고    scopus 로고
    • SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome
    • Medeiros-Domingo A, Kaku T, Tester DJ, et al. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 2007; 116:134-142.
    • (2007) Circulation , vol.116 , pp. 134-142
    • Medeiros-Domingo, A.1    Kaku, T.2    Tester, D.J.3
  • 44
    • 34249736797 scopus 로고    scopus 로고
    • When will we know enough to treat atrial fibrillation?
    • Anderson ME. When will we know enough to treat atrial fibrillation? Heart Rhythm 2007;4:750-751.
    • (2007) Heart Rhythm , vol.4 , pp. 750-751
    • Anderson, M.E.1
  • 45
    • 0037428218 scopus 로고    scopus 로고
    • KCNQ1 gain-of-function mutation in familial atrial fibrillation
    • Chen YH, Xu SJ, Bendahhou S, et al. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 2003;299:251-254.
    • (2003) Science , vol.299 , pp. 251-254
    • Chen, Y.H.1    Xu, S.J.2    Bendahhou, S.3
  • 46
    • 10744225763 scopus 로고    scopus 로고
    • KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death
    • Chen S, Zhang L, Bryant RM, et al. KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death. Clin Genet 2003;63:273-282.
    • (2003) Clin Genet , vol.63 , pp. 273-282
    • Chen, S.1    Zhang, L.2    Bryant, R.M.3
  • 47
    • 0031004845 scopus 로고    scopus 로고
    • Identification of a genetic locus for familial atrial fibrillation
    • Brugada R, Tapscott T, Czernuszewicz GZ, et al. Identification of a genetic locus for familial atrial fibrillation. N Engl J Med 1997;336:905-911.
    • (1997) N Engl J Med , vol.336 , pp. 905-911
    • Brugada, R.1    Tapscott, T.2    Czernuszewicz, G.Z.3
  • 48
    • 46849109495 scopus 로고    scopus 로고
    • Molecular genetics of atrial fibrillation
    • Tsai CT, Lai LP, Hwang JJ, et al. Molecular genetics of atrial fibrillation. J Am Coll Cardiol 2008;52:241-250.
    • (2008) J Am Coll Cardiol , vol.52 , pp. 241-250
    • Tsai, C.T.1    Lai, L.P.2    Hwang, J.J.3
  • 49
    • 42149147897 scopus 로고    scopus 로고
    • Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation
    • Darbar D, Kannankeril PJ, Donahue BS, et al. Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation 2008;117: 1927-1935.
    • (2008) Circulation , vol.117 , pp. 1927-1935
    • Darbar, D.1    Kannankeril, P.J.2    Donahue, B.S.3
  • 50
    • 70349451838 scopus 로고    scopus 로고
    • Mutations in sodium channel beta1-and beta2-subunits associated with atrial fibrillation
    • Watanabe H, Darbar D, Kaiser DW, et al. Mutations in sodium channel beta1-and beta2-subunits associated with atrial fibrillation. Circ Arrhythm Electrophysiol 2009;2:268-275.
    • (2009) Circ Arrhythm Electrophysiol , vol.2 , pp. 268-275
    • Watanabe, H.1    Darbar, D.2    Kaiser, D.W.3
  • 51
    • 54549087832 scopus 로고    scopus 로고
    • A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation
    • Benito B, Brugada R, Perich RM, et al. A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. Heart Rhythm 2008;5:1434-1440.
    • (2008) Heart Rhythm , vol.5 , pp. 1434-1440
    • Benito, B.1    Brugada, R.2    Perich, R.M.3
  • 52
    • 52949142183 scopus 로고    scopus 로고
    • Role of potassium currents in cardiac arrhythmias
    • Ravens U, Cerbai E. Role of potassium currents in cardiac arrhythmias. Europace 2008;10:1133-1137.
    • (2008) Europace , vol.10 , pp. 1133-1137
    • Ravens, U.1    Cerbai, E.2
  • 53
    • 4544387969 scopus 로고    scopus 로고
    • Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers
    • Priori SG, Napolitano C, Schwartz PJ, et al. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA 2004;292:1341-1344.
    • (2004) JAMA , vol.292 , pp. 1341-1344
    • Priori, S.G.1    Napolitano, C.2    Schwartz, P.J.3
  • 54
    • 1942534554 scopus 로고    scopus 로고
    • Compound mutations: A common cause of severe long-QT syndrome
    • Westenskow P, Splawski I, Timothy KW, et al. Compound mutations: a common cause of severe long-QT syndrome. Circulation 2004;109:1834-1841.
    • (2004) Circulation , vol.109 , pp. 1834-1841
    • Westenskow, P.1    Splawski, I.2    Timothy, K.W.3
  • 55
    • 49749174698 scopus 로고
    • Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death
    • Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J 1957;54:59-68.
    • (1957) Am Heart J , vol.54 , pp. 59-68
    • Jervell, A.1    Lange-Nielsen, F.2
  • 56
    • 0029952101 scopus 로고    scopus 로고
    • K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current
    • Barhanin J, Lesage F, Guillemare E, Fink M, Lazdunski M, Romey G. K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 1996;384:78-80.
    • (1996) Nature , vol.384 , pp. 78-80
    • Barhanin, J.1    Lesage, F.2    Guillemare, E.3    Fink, M.4    Lazdunski, M.5    Romey, G.6
  • 58
    • 34548321506 scopus 로고    scopus 로고
    • A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome
    • Aizawa Y, Ueda K, Scornik F, et al. A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome. J Cardiovasc Electrophysiol 2007;18:972-977.
    • (2007) J Cardiovasc Electrophysiol , vol.18 , pp. 972-977
    • Aizawa, Y.1    Ueda, K.2    Scornik, F.3
  • 59
    • 34248512934 scopus 로고    scopus 로고
    • Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene
    • Moss AJ, Shimizu W, Wilde AA, et al. Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation 2007;115:2481-2489.
    • (2007) Circulation , vol.115 , pp. 2481-2489
    • Moss, A.J.1    Shimizu, W.2    Wilde, A.A.3
  • 60
    • 0032837051 scopus 로고    scopus 로고
    • Cellular dysfunction of LQT5-minK mutants: Abnormalities of Iks, IKr and trafficking in long QT syndrome
    • Bianchi L, Shen Z, Dennis AT, et al. Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. Hum Mol Genet 1999;8:1499-1507.
    • (1999) Hum Mol Genet , vol.8 , pp. 1499-1507
    • Bianchi, L.1    Shen, Z.2    Dennis, A.T.3
  • 61
    • 0030872366 scopus 로고    scopus 로고
    • A minK-HERG complex regulates the cardiac potassium current I(Kr)
    • McDonald TV, Yu Z, Ming Z, et al. A minK-HERG complex regulates the cardiac potassium current I(Kr). Nature 1997;388:289-292.
    • (1997) Nature , vol.388 , pp. 289-292
    • McDonald, T.V.1    Yu, Z.2    Ming, Z.3
  • 63
    • 0029002969 scopus 로고
    • A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel
    • Sanguinetti MC, Jiang C, Curran ME, Keating MT. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell 1995;81:299-307.
    • (1995) Cell , vol.81 , pp. 299-307
    • Sanguinetti, M.C.1    Jiang, C.2    Curran, M.E.3    Keating, M.T.4
  • 65
    • 71849098104 scopus 로고    scopus 로고
    • Genotype-phenotype aspects of type 2 long QT syndrome
    • Shimizu W, Moss AJ, Wilde AA, et al. Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol 2009;54:2052-2062.
    • (2009) J Am Coll Cardiol , vol.54 , pp. 2052-2062
    • Shimizu, W.1    Moss, A.J.2    Wilde, A.A.3
  • 66
    • 0033574273 scopus 로고    scopus 로고
    • MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia
    • Abbott GW, Sesti F, Splawski I, et al. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 1999;97:175-187.
    • (1999) Cell , vol.97 , pp. 175-187
    • Abbott, G.W.1    Sesti, F.2    Splawski, I.3
  • 67
    • 33144477356 scopus 로고    scopus 로고
    • Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7)
    • Tsuboi M, Antzelevitch C. Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7). Heart Rhythm 2006;3:328-335.
    • (2006) Heart Rhythm , vol.3 , pp. 328-335
    • Tsuboi, M.1    Antzelevitch, C.2
  • 68
    • 0035907032 scopus 로고    scopus 로고
    • Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
    • Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001;105:511-519.
    • (2001) Cell , vol.105 , pp. 511-519
    • Plaster, N.M.1    Tawil, R.2    Tristani-Firouzi, M.3
  • 69
    • 0028298042 scopus 로고
    • Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
    • Tawil R, Ptacek LJ, Pavlakis SG, et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994;35:326-330.
    • (1994) Ann Neurol , vol.35 , pp. 326-330
    • Tawil, R.1    Ptacek, L.J.2    Pavlakis, S.G.3
  • 70
    • 11144353696 scopus 로고    scopus 로고
    • Short QT syndrome: Pharmacological treatment
    • Gaita F, Giustetto C, Bianchi F, et al. Short QT syndrome: pharmacological treatment. J Am Coll Cardiol 2004;43:1494-1499.
    • (2004) J Am Coll Cardiol , vol.43 , pp. 1494-1499
    • Gaita, F.1    Giustetto, C.2    Bianchi, F.3
  • 71
    • 2542491002 scopus 로고    scopus 로고
    • Mutation in the KCNQ1 gene leading to the short QT-interval syndrome
    • Bellocq C, van Ginneken AC, Bezzina CR, et al. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 2004;109: 2394-2397.
    • (2004) Circulation , vol.109 , pp. 2394-2397
    • Bellocq, C.1    Van Ginneken, A.C.2    Bezzina, C.R.3
  • 74
    • 20244364402 scopus 로고    scopus 로고
    • A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene
    • 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. Circ Res 2005;96: 800-807.
    • (2005) Circ Res , vol.96 , pp. 800-807
    • Priori, S.G.1    Pandit, S.V.2    Rivolta, I.3
  • 75
    • 34848928742 scopus 로고    scopus 로고
    • Atrial fibrillation\a new cardiac channelopathy
    • Otway R, Vandenberg JI, Fatkin D. Atrial fibrillation\a new cardiac channelopathy. Heart Lung Circ 2007;16:356-360.
    • (2007) Heart Lung Circ , vol.16 , pp. 356-360
    • Otway, R.1    Vandenberg, J.I.2    Fatkin, D.3
  • 76
    • 6344292572 scopus 로고    scopus 로고
    • Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation
    • Yang Y, Xia M, Jin Q, et al. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet 2004;75:899-905.
    • (2004) Am J Hum Genet , vol.75 , pp. 899-905
    • Yang, Y.1    Xia, M.2    Jin, Q.3
  • 77
    • 20444372298 scopus 로고    scopus 로고
    • A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation
    • Xia M, Jin Q, Bendahhou S, et al. A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun 2005; 332:1012-1019.
    • (2005) Biochem Biophys Res Commun , vol.332 , pp. 1012-1019
    • Xia, M.1    Jin, Q.2    Bendahhou, S.3
  • 79
    • 33745635351 scopus 로고    scopus 로고
    • Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation
    • Olson TM, Alekseev AE, Liu XK, et al. Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum Mol Genet 2006;15:2185-2191.
    • (2006) Hum Mol Genet , vol.15 , pp. 2185-2191
    • Olson, T.M.1    Alekseev, A.E.2    Liu, X.K.3
  • 80
    • 38449113610 scopus 로고    scopus 로고
    • Channelopathies in children and adults
    • Wilde AA. Channelopathies in children and adults. Pacing Clin Electrophysiol 2008;31(suppl 1):S41-S45.
    • (2008) Pacing Clin Electrophysiol , vol.31 , Issue.SUPPL. 1
    • Wilde, A.A.1
  • 81
    • 33846627787 scopus 로고    scopus 로고
    • Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death
    • Antzelevitch C, Pollevick GD, Cordeiro JM, et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation 2007;115:442-449.
    • (2007) Circulation , vol.115 , pp. 442-449
    • Antzelevitch, C.1    Pollevick, G.D.2    Cordeiro, J.M.3
  • 82
    • 34250763837 scopus 로고    scopus 로고
    • Heterogeneity and cardiac arrhythmias: An overview
    • Antzelevitch C. Heterogeneity and cardiac arrhythmias: an overview. Heart Rhythm 2007;4:964-972.
    • (2007) Heart Rhythm , vol.4 , pp. 964-972
    • Antzelevitch, C.1
  • 83
    • 59649098928 scopus 로고    scopus 로고
    • The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: Multiple altered gating mechanisms and pharmacological restoration of inactivation
    • Yarotskyy V, Gao G, Peterson BZ, Elmslie KS. The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. J Physiol 2009;587(Pt 3):551-565.
    • (2009) J Physiol , vol.587 , Issue.PART 3 , pp. 551-565
    • Yarotskyy, V.1    Gao, G.2    Peterson, B.Z.3    Elmslie, K.S.4
  • 84
    • 36048981858 scopus 로고    scopus 로고
    • Inherited arrhythmias: A National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function
    • Lehnart SE, Ackerman MJ, Benson DW Jr, et al. Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function. Circulation 2007;116:2325-2345.
    • (2007) Circulation , vol.116 , pp. 2325-2345
    • Lehnart, S.E.1    Ackerman, M.J.2    Benson Jr, D.W.3
  • 85
    • 5344223383 scopus 로고    scopus 로고
    • Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • Splawski 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.
    • (2004) Cell , vol.119 , pp. 19-31
    • Splawski, I.1    Timothy, K.W.2    Sharpe, L.M.3
  • 87
    • 77950228148 scopus 로고    scopus 로고
    • Transseptal dispersion of repolarization and its role in the development of torsade de pointes arrhythmias [published online ahead of print November 10, 2010]
    • Doi: 10.1111/j.1540-8167.2009.01641.x
    • Sicouri S, Glass A, Ferreiro M, Antzelevitch C. Transseptal dispersion of repolarization and its role in the development of torsade de pointes arrhythmias [published online ahead of print November 10, 2010]. J Cardiovasc Electrophysiol Doi: 10.1111/j.1540-8167.2009.01641.x.
    • J Cardiovasc Electrophysio
    • Sicouri, S.1    Glass, A.2    Ferreiro, M.3    Antzelevitch, C.4
  • 88
    • 34247352466 scopus 로고    scopus 로고
    • Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: Effects of ranolazine
    • Sicouri S, Timothy KW, Zygmunt AC, et al. Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine. Heart Rhythm 2007;4:638-647.
    • (2007) Heart Rhythm , vol.4 , pp. 638-647
    • Sicouri, S.1    Timothy, K.W.2    Zygmunt, A.C.3
  • 89
    • 73549088485 scopus 로고    scopus 로고
    • Beta-adrenergic modulation of arrhyth-mogenesis and identification of targeted sites of antiarrhythmic therapy in Timothy (LQT8) syndrome: A theoretical study
    • Sung RJ, Wu YH, Lai NH, et al. Beta-adrenergic modulation of arrhyth-mogenesis and identification of targeted sites of antiarrhythmic therapy in Timothy (LQT8) syndrome: a theoretical study. Am J Physiol Heart Circ Physiol 2010;298:H33-H44.
    • (2010) Am J Physiol Heart Circ Physiol , vol.298
    • Sung, R.J.1    Wu, Y.H.2    Lai, N.H.3
  • 90
    • 0037708928 scopus 로고    scopus 로고
    • FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death
    • Wehrens XH, Lehnart SE, Huang F, et al. FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell 2003;113:829-840.
    • (2003) Cell , vol.113 , pp. 829-840
    • Wehrens, X.H.1    Lehnart, S.E.2    Huang, F.3
  • 91
    • 0036198243 scopus 로고    scopus 로고
    • Catecholaminergic polymorphic ventricular tachyarrhythmias in children
    • Coumel P. Catecholaminergic polymorphic ventricular tachyarrhythmias in children. Card Electrophysiol Rev 2002;6:93-95.
    • (2002) Card Electrophysiol Rev , vol.6 , pp. 93-95
    • Coumel, P.1
  • 92
    • 0028957403 scopus 로고
    • Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients
    • Leenhardt A, Lucet V, Denjoy I, Grau F, Ngoc DD, Coumel P. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation 1995;91:1512-1519.
    • (1995) Circulation , vol.91 , pp. 1512-1519
    • Leenhardt, A.1    Lucet, V.2    Denjoy, I.3    Grau, F.4    Ngoc, D.D.5    Coumel, P.6
  • 93
    • 71849090068 scopus 로고    scopus 로고
    • The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: A comprehensive open reading frame mutational analysis
    • Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, et al. The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol 2009; 54:2065-2074.
    • (2009) J Am Coll Cardiol , vol.54 , pp. 2065-2074
    • Medeiros-Domingo, A.1    Bhuiyan, Z.A.2    Tester, D.J.3
  • 94
    • 0035969990 scopus 로고    scopus 로고
    • Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
    • Laitinen PJ, Brown KM, Piippo K, et al. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001;103:485-490.
    • (2001) Circulation , vol.103 , pp. 485-490
    • Laitinen, P.J.1    Brown, K.M.2    Piippo, K.3
  • 96
    • 0035849570 scopus 로고    scopus 로고
    • Autosomal recessive cate-cholamine-or exercise-induced polymorphic ventricular tachycardia: Clinical features and assignment of the disease gene to chromosome 1p13-21
    • Lahat H, Eldar M, Levy-Nissenbaum E, et al. Autosomal recessive cate-cholamine-or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation 2001;103:2822-2827.
    • (2001) Circulation , vol.103 , pp. 2822-2827
    • Lahat, H.1    Eldar, M.2    Levy-Nissenbaum, E.3
  • 97
    • 0242464931 scopus 로고    scopus 로고
    • Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
    • Mohler PJ, Schott JJ, Gramolini AO, et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 2003;421: 634-639.
    • (2003) Nature , vol.421 , pp. 634-639
    • Mohler, P.J.1    Schott, J.J.2    Gramolini, A.O.3
  • 98
    • 33751016041 scopus 로고    scopus 로고
    • Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome
    • Vatta M, Ackerman MJ, Ye B, et al. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 2006;114:2104-2112.
    • (2006) Circulation , vol.114 , pp. 2104-2112
    • Vatta, M.1    Ackerman, M.J.2    Ye, B.3
  • 99
    • 25644442465 scopus 로고    scopus 로고
    • Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: Boundaries and contiguities
    • Guglieri M, Magri F, Comi GP. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities. Clin Chim Acta 2005;361:54-79.
    • (2005) Clin Chim Acta , vol.361 , pp. 54-79
    • Guglieri, M.1    Magri, F.2    Comi, G.P.3
  • 100
    • 56549103545 scopus 로고    scopus 로고
    • Alpha-1-syntrophin mutation and the long-QT syndrome: A disease of sodium channel disruption
    • Wu G, Ai T, Kim JJ, et al. Alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. Circ Arrhythm Electro-physiol 2008;1:193-201.
    • (2008) Circ Arrhythm Electro-physiol , vol.1 , pp. 193-201
    • Wu, G.1    Ai, T.2    Kim, J.J.3
  • 101
    • 48249148221 scopus 로고    scopus 로고
    • Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex
    • Ueda K, Valdivia C, Medeiros-Domingo A, et al. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci USA 2008;105: 9355-9360.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 9355-9360
    • Ueda, K.1    Valdivia, C.2    Medeiros-Domingo, A.3
  • 102
    • 46949093558 scopus 로고    scopus 로고
    • Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation
    • Hodgson-Zingman DM, Karst ML, Zingman LV, et al. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. N Engl J Med 2008;359:158-165.
    • (2008) N Engl J Med , vol.359 , pp. 158-165
    • Hodgson-Zingman, D.M.1    Karst, M.L.2    Zingman, L.V.3
  • 103
    • 57349179985 scopus 로고    scopus 로고
    • Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death
    • Zhang X, Chen S, Yoo S, et al. Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell 2008;135:1017-1027.
    • (2008) Cell , vol.135 , pp. 1017-1027
    • Zhang, X.1    Chen, S.2    Yoo, S.3


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