The long QT syndrome: Therapeutic implications of a genetic diagnosis

Cardiovascular Research

Volumn 67, Issue 3, 2005, Pages 347-356

  Shimizu, Wataru ^a  

^a NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM CHANNEL; CHROMANOL 293B; FLECAINIDE; ISOPRENALINE; MEXILETINE; NICORANDIL; POTASSIUM; POTASSIUM CHANNEL; PROPRANOLOL; SODIUM CHANNEL; SODIUM CHANNEL BLOCKING AGENT; VERAPAMIL;

AUDITORY STIMULATION; BRADYCARDIA; CHROMOSOME; CLINICAL STUDY; DEFIBRILLATOR; DRUG EFFICACY; ETHNOLOGY; EXERCISE; EXPERIMENTATION; GENE MUTATION; GENETIC DISORDER; GENETIC POLYMORPHISM; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEART DENERVATION; HEART VENTRICLE TACHYCARDIA; HUMAN; LONG QT SYNDROME; MEMBRANE CHANNEL; MENTAL STRESS; MOLECULAR GENETICS; NONHUMAN; PACEMAKER; PATIENT; POTASSIUM BLOOD LEVEL; PRIORITY JOURNAL; QT INTERVAL; REVIEW; RISK FACTOR; RISK MANAGEMENT; SEX DIFFERENCE; SUDDEN DEATH; SWIMMING; SYNCOPE; TORSADE DES POINTES;

ANIMALS; DEATH, SUDDEN, CARDIAC; DEFIBRILLATORS, IMPLANTABLE; ETHNIC GROUPS; HUMANS; ION CHANNELS; LONG QT SYNDROME; PACEMAKER, ARTIFICIAL; POLYMORPHISM, GENETIC; RISK ASSESSMENT; SYMPATHECTOMY;

EID: 22544483871     PISSN: 00086363     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cardiores.2005.03.020     Document Type: Review

References (84)

1. M. Keating, D. Atkinson, C. Dunn, K. Timothy, G.M. Vincent, and M. Leppert Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene Science 252 1991 704 706
2. C.D. Donger, I. Denjoy, M. Berthet, N. Neyroud, C. Cruaud, and M. Bennaceur KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome Circulation 96 1997 2778 2781
3. Q. Chen, GE. Kirsch, D. Zhang, R. Brugada, J. Brugada, and P. Brugada Genetic basis and molecular mechanisms for idiopathic ventricular fibrillation Nature 392 1998 293 296
4. J.J. Schott, C. Alshinawi, F. Kyndt, V. Probst, T.M. Hoorntje, and M. Hulsbeek Cardiac conduction defects associate with mutations in SCN5A Nat Genet 23 1999 20 21
5. S.G. Priori, C. Napolitano, N. Tiso, M. Memmi, G. Vignati, and R. Bloise Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia Circulation 103 2001 196 200
6. P.J. Laitinen, K.M. Brown, K. Piippo, H. Swan, J.M. Devaney, and B. Brahmbhatt Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia Circulation 103 2001 485 490
7. B. Gerull, A. Heuser, T. Wichter, M. Paul, C.T. Basson, and D.A. McDermott Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy Nat Genet 36 2004 1162 1164
8. Y.H. Chen, S.J. Xu, S. Bendahhou, X.L. Wang, Y. Wang, and W.Y. Xu KCNQ1 gain-of-function mutation in familial atrial fibrillation Science 299 2003 251 254
9. M.W. Veldkamp, R. Wilders, A. Baartscheer, J.G. Zegers, C.R. Bezzina, and A.A. Wilde Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families Circ Res 92 2003 976 983
10. E. Schulze-Bahr, A. Neu, P. Friederich, U.B. Kaupp, G. Breithardt, and O. Pongs Pacemaker channel dysfunction in a patient with sinus node disease J Clin Invest 111 2003 1537 1545
11. R. Brugada, K. Hong, R. Dumaine, J. Cordeiro, F. Gaita, and M. Borggrefe Sudden death associated with short-QT syndrome linked to mutations in HERG Circulation 109 2004 30 35
12. P.J. Schwartz, M. Periti, and A. Malliani The long QT syndrome Am Heart J 89 1975 378 390
13. A.J. Moss, P.J. Schwartz, R.S. Crampton, E. Locati, and E. Carleen The long QT syndrome: a prospective international study Circulation 71 1985 17 21
14. G.M. Vincent, K.W. Timothy, M. Leppert, and M. Keating The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome N Engl J Med 327 1992 846 852
15. P.J. Schwartz, A.J. Moss, G.M. Vincent, and R.S. Crampton Diagnostic criteria for the long QT syndrome: an update Circulation 88 1993 782 784
16. Kr potassium channel Cell 81 1995 299 307
17. Q. Wang, J. Shen, I. Splawski, D.L. Atkinson, Z.Z. Li, and J.L. Robinson SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome Cell 80 1995 805 811
18. I. Splawski, J. Shen, K.W. Timothy, M.H. Lehmann, S. Priori, and J.L. Robinson Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 Circulation 102 2000 1178 1185
19. N.M. Plaster, R. Tawil, M. Tristani-Firouzi, S. Canun, S. Bendahhou, and A. Tsunoda Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome Cell 105 2001 511 519
20. P.J. Mohler, J.J. Schott, A.O. Gramolini, K.W. Dilly, S. Guatimosim, and W.H. DuBell Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death Nature 421 2003 634 639
21. I. Splawski, K.W. Timothy, L.M. Sharpe, N. Decher, P. Kumar, and R. Bloise Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism Cell 119 2004 19 31
22. M.C. Sanguinetti, M.E. Curran, A. Zou, J Shen, P.S. Spector, and D.L. Atkinson Coassembly of KvLQT1 and minK (IsK) proteins to form cardiac IKs potassium channel Nature 384 1996 80 83
23. Ks cardiac potassium current Nature 384 1996 78 80
24. Kr potassium channels with HERG and is associated with cardiac arrhythmia Cell 97 1999 175 187
25. P.J. Schwartz, M. Stramba-Badiale, A. Segantini, P. Austoni, G. Bosi, and R. Giorgetti Prolongation of the QT interval and the sudden infant death syndrome N Engl J Med 338 1998 1709 1714
26. P.J. Schwartz, S.G. Priori, R. Dumaine, C. Napolitano, C. Antzelevitch, and M. Stramba-Badiale A molecular link between the sudden infant death syndrome and the long-QT syndrome N Engl J Med 343 2000 262 267
27. M.J. Ackerman, B.L. Siu, W.Q. Sturner, D.J. Tester, C.R. Valdivia, and J.C. Makielski Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome JAMA 286 2001 2264 2269
28. W. Shimizu, and C. Antzelevitch Sodium channel block with mexiletine is effective in reducing dispersion of repolarization and preventing torsade de pointes in LQT2 and LQT3 models of the long-QT syndrome Circulation 96 1997 2038 2047
29. G.X. Yan, and C. Antzelevitch Cellular basis for the normal T wave and the electrocardiographic manifestations of the long QT syndrome Circulation 98 1998 1928 1936
30. C. Antzelevitch, G.X. Yan, W. Shimizu, and A. Burashnikov Electrical heterogeneity, the ECG, and cardiac arrhythmias D.P. Zipes J. Jalife Cardiac electrophysiology: from cell to bedside 3rd edition 1999 W.B. Saunders Co Philadelphia 222 238
31. C. Antzelevitch, W. Shimizu, G.X. Yan, S. Sicouri, J. Weissenberger, and V. Nesterenko The M cell: its contribution to the ECG and to normal and abnormal electrical function of the heart J Cardiovasc Electrophysiol 10 1999 1124 1152
32. A.J. Moss, W. Zareba, J. Benhorin, E.H. Locati, W.J. Hall, and J.L. Robinson ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome Circulation 92 1995 2929 2934
33. L. Zhang, K.W. Timothy, G.M. Vincent, M.H. Lehmann, J. Fox, and L.C. Giuli Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes Circulation 102 2000 2849 2855
34. K. Takenaka, T. Ai, W. Shimizu, A. Kobori, T. Ninomiya, and H. Otani Exercise stress test amplifies genotype-phenotype correlation in the LQT1 and LQT2 forms of the long QT syndrome Circulation 107 2003 838 844
35. W. Shimizu, and C. Antzelevitch Cellular basis for the electrocardiographic features of the LQT1 form of the long QT syndrome: effects of β-adrenergic agonists, antagonists and sodium channel blockers on transmural dispersion of repolarization and Torsade de Pointes Circulation 98 1998 2314 2322
36. W. Shimizu, and C. Antzelevitch Cellular and ionic basis for T wave alternans under long QT conditions Circulation 99 1999 1499 1507
37. W. Shimizu, and C. Antzelevitch Cellular basis for long QT, transmural dispersion of repolarization and Torsade de Pointes in the long QT syndrome J Electrocardiol 32 1999 177 184
38. W. Shimizu, and C. Antzelevitch Differential effects of beta-adrenergic agonists and antagonists in LQT1, LQT2 and LQT3 models of the long QT syndrome J Am Coll Cardiol 35 2000 778 786
39. + channel opener to reduce transmural dispersion of repolarization and prevent Torsade de Pointes in LQT1, LQT2 and LQT3 models of the long-QT syndrome Circulation 102 2000 706 712
40. P.J. Schwartz, S.G. Priori, C. Spazzolini, A.J. Moss, G.M. Vincent, and C. Napolitano Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias Circulation 103 2001 89 95
41. A.J. Moss, J.L. Robinson, L. Gessman, R. Gillespie, W. Zareba, and P.J. Schwartz Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome Am J Cardiol 84 1999 876 879
42. A.A.M. Wilde, R.J.E. Jongbloed, P.A. Doevendans, D.R. Duren, R.N.W. Hauer, and I.M. van Langen Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQT2) patients from KVLQT1-related patients (LQT1) J Am Coll Cardiol 33 1999 327 332
43. M.J. Ackerman, D.J. Tester, and C.J. Porter Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome Mayo Clin Proc 74 1999 1088 1094
44. A. Khositseth, D.J. Tester, M.L. Will, C.M. Bell, and M.J. Ackerman Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome Heart Rhythm 1 2004 60 64
45. + channel blockade, β-adrenergic simulation, and rapid pacing in a cellular model mimicking the SCN5A and HERG defects present in the long-QT syndrome Circ Res 78 1996 1009 1015
46. D.P. Zipes The long QT interval syndrome. A Rosetta stone for sympathetic related ventricular tachyarrhythmias Circulation 84 1991 1414 1419
47. Y. Tanabe, M. Inagaki, T. Kurita, N. Nagaya, A. Taguchi, and K. Suyama Sympathetic stimulation produces a greater increase in both transmural and spatial dispersion of repolarization in LQT1 than LQT2 forms of congenital long QT syndrome J Am Coll Cardiol 37 2001 911 919
48. T. Noda, H. Takaki, T. Kurita, K. Suyama, N. Nagaya, and A. Taguchi Gene-specific response of dynamic ventricular repolarization to sympathetic stimulation in LQT1, LQT2 and LQT3 forms of congenital long QT syndrome Eur Heart J 23 2002 975 983
49. M.J. Ackerman, A. Khositseth, D.J. Tester, J.B. Hejlik, W.K. Shen, and C.B. Porter Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome Mayo Clin Proc 77 2002 413 421
50. W. Shimizu, Y. Tanabe, T. Aiba, M. Inagaki, T. Kurita, and K. Suyama Differential effects of β-blockade on dispersion of repolarization in absence and presence of sympathetic stimulation between LQT1 and LQT2 forms of congenital long QT syndrome J Am Coll Cardiol 39 2002 1984 1991
51. W. Shimizu, T. Noda, H. Takaki, T. Kurita, N. Nagaya, and K. Satomi Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long QT syndrome J Am Coll Cardiol 41 2003 633 642
52. W. Shimizu, T. Noda, H. Takaki, N. Nagaya, K. Satomi, and T. Kurita Diagnostic value of epinephrine test for genotyping LQT1, LQT2 and LQT3 forms of congenital long QT syndrome Heart Rhythm 1 2001 276 283
53. W. Zareba, A.J. Moss, P.J. Schwartz, G.M. Vincent, J.L. Robinson, and S.G. Priori Influence of the genotype on the clinical course of the long-QT syndrome N Engl J Med 339 1998 960 965
54. E.H. Locati, W. Zareba, A.J. Moss, P.J. Schwartz, G.M. Vincent, and M.H. Lehmann Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the international LQTS registry Circulation 97 1998 2237 2244
55. S.G. Priori, P.J. Schwartz, C. Napolitano, R. Bloise, E. Ronchetti, and M. Grillo Risk stratification in the long-QT syndrome N Engl J Med 348 2003 1866 1874
56. A.J. Moss, W. Zareba, W.J. Hall, P.J. Schwartz, R.S. Crampton, and J. Benhorin Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome Circulation 101 2000 616 623
57. + channel blockade and to increases in heart rate: implications for gene-specific therapy Circulation 92 1995 3381 3386
58. E. Schulze-Bahr, H. Fenge, D. Etzrodt, W. Haverkamp, G. Monnig, and H. Wedekind Long QT syndrome and life threatening arrhythmia in a newborn: molecular diagnosis and treatment response Heart 90 2004 13 16
59. S.G. Priori, C. Napolitano, P.J. Schwartz, M. Grillo, R. Bloise, and E. Ronchetti Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers JAMA 292 2004 1341 1344
60. A.C. Zygmunt, G.T. Eddlestone, G.P. Thomas, V.V. Nesterenko, and C. Antzelevitch Larger late sodium conductance in M cells contributes to electrical heterogeneity in canine ventricle Am J Physiol Heart Circ Physiol 281 2001 H689 H697
61. W. Shimizu, T. Ohe, T. Kurita, M. Kawade, Y. Arakaki, and N. Aihara Effects of verapamil and propranolol on early afterdepolarizations and ventricular arrhythmias induced by epinephrine in congenital long QT syndrome J Am Coll Cardiol 26 1995 1299 1309
62. T. Aiba, W. Shimizu, M. Inagaki, T. Noda, S. Miyoshi, and W.G. Ding Cellular and ionic mechanism for drug-induced long-QT syndrome and effectiveness of verapamil J Am Coll Cardiol 45 2005 300 307
63. + channel opener in the LQT1 form of congenital long QT syndrome Circulation 97 1998 1581 1588
64. P.J. Schwartz, and E. Locati The idiopathic long QT syndrome: pathogenetic mechanisms and therapy Eur Heart J 6 Suppl D 1985 103 114
65. H. Hirao, W. Shimizu, T. Kurita, N. Aihara, S. Kamakura, and K. Shimomura Frequency-dependent electrophysiologic properties of ventricular repolarization in patients with congenital long QT syndrome J Am Coll Cardiol 28 1996 1269 1277
66. M. Eldar, J.C. Griffin, G.F. Van Hare, C. Witherell, A. Bhandari, and D. Benditt Combined use of beta-adrenergic agents and long-term cardiac pacing for patients with the long QT syndrome J Am Coll Cardiol 20 1992 830 837
67. P.J. Schwartz, E.H. Locati, A.J. Moss, R.S. Crampton, R. Trazzi, and U. Ruberti Left cardiac sympathetic denervation in the therapy of congenital long QT syndrome. A worldwide report Circulation 84 1991 503 511
68. P.J. Schwartz, S.G. Priori, M. Cerrone, C. Spazzolini, A. Odero, and C. Napolitano Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome Circulation 109 2004 1826 1833
69. A.A.M. Wilde Is there a role for implantable cardioverter defibrillators in long QT syndrome? J Cardiovasc Electrophysiol 13 2002 110 113 [Suppl]
70. W. Zareba, A.J. Moss, J.P. Daubert, W.J. Hall, J.L. Robinson, and M. Andrews Implantable cardioverter defibrillator in high-risk long QT syndrome patients J Cardiovasc Electrophysiol 14 2003 337 341
71. S.J. Compton, R.L. Lux, M.R. Ramsey, K.R. Strelich, M.C. Sanguinetti, and L.S. Green Genetically defined therapy of inherited long-QT syndrome. Correction of abnormal repolarization by potassium Circulation 94 1996 1018 1022
72. S.P. Etheridge, S.J. Compton, M. Tristani-Firouzi, and J.W. Mason A new oral therapy for long QT syndrome: long-term oral potassium improves repolarization in patients with HERG mutations J Am Coll Cardiol 42 2003 1777 1782
73. H.L. Tan, M. Alings, R.W. Van Olden, and A.A. Wilde Long-term (subacute) potassium treatment in congenital HERG-related long QT syndrome (LQTS2) J Cardiovasc Electrophysiol 10 1999 229 333
74. + channel long-QT2 mutations: human ether-a-go-go-related gene rescue without block Circulation 105 2002 2830 2835
75. T. Noda, W. Shimizu, K. Satomi, K. Suyama, T. Kurita, and N. Aihara Classification and mechanism of Torsade de Pointes initiation in patients with congenital long QT syndrome Eur Heart J 25 2004 2149 2154
76. A.A. Wilde, A. Bardai, and H.L. Tan A genotype-specific mode of onset of Torsade de Pointes in the congenital long-QT syndrome: relevance for therapy strategies Circulation 110 2004 III-622 (Abstract)
77. A.D. Ten Harkel, M. Witsenburg, P.L. de Jong, L. Jordaens, M. Wijman, and AA. Wilde Efficacy of an implantable cardioverter-defibrillator in a neonate with LQT3 associated arrhythmias Europace 7 2005 77 84
78. J. Benhorin, R. Taub, M. Goldmit, B. Kerem, R.S. Kass, and I. Windman Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome? Circulation 101 2000 1698 1706
79. S.G. Priori, C. Napolitano, P.J. Schwartz, R. Bloise, L. Crotti, and E. Ronchetti The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge Circulation 102 2000 945 947
80. A.J. Moss, W. Zareba, E.S. Kaufman, E. Gartman, D.R. Peterson, and J. Benhorin Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel Circulation 105 2002 794 799
81. W. Zareba, A.J. Moss, G. Sheu, E.S. Kaufman, S. Priori, and G.M. Vincent Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome J Cardiovasc Electrophysiol 14 2003 1149 1153
82. W. Shimizu, M. Horie, S. Ohno, K. Takenaka, M. Yamaguchi, and M. Shimizu Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in LQT1 form of congenital long QT syndrome-multi-center study in Japan J Am Coll Cardiol 44 2004 117 125
83. I. Splawski, K.W. Timothy, M. Tateyama, C.E. Clancy, A. Malhotra, and A.H. Beggs Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia Science 297 2002 1333 1336
84. T. Kubota, M. Horie, M. Takano, H. Yoshida, K. Takenaka, and E. Watanabe Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias J Cardiovasc Electrophysiol 12 2001 1223 1229