Brugada syndrome

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2. 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. Circulation 2005; 111: 659–670.

3. Matsuo K, Akahoshi M, Nakashima E et al. The prevalence, incidence and prognostic value of the Brugada-type electrocardiogram: a population-based study of four decades. J Am Coll Cardiol 2001; 38: 765–770.

4. Gervacio-Domingo G, Isidro J, Tirona J et al. The Brugada type 1 electrocardiographic pattern is common among Filipinos. J Clin Epidemiol 2008; 61: 1067–1072.

5. Pecini R, Cedergreen P, Theilade S et al. The prevalence and relevance of the Brugada-type electrocardiogram in the Danish general population: data from the Copenhagen City Heart Study. Europace 2010; 12: 982–986.

6. Gallagher MM, Forleo GB, Behr ER et al. Prevalence and significance of Brugada-type ECG in 12,012 apparently healthy European subjects. Int J Cardiol 2008; 130: 44–48.

7. Blangy H, Sadoul N, Coutelour JM et al. Prevalence of Brugada syndrome among 35,309 inhabitants of Lorraine screened at a preventive medicine centre. Arch Mal Coeur Vaiss 2005; 98: 175–180.

8. Letsas KP, Gavrielatos G, Efremidis M et al. Prevalence of Brugada sign in a Greek tertiary hospital population. Europace 2007; 9: 1077–1080.

9. Wilde AA, Postema PG, Di Diego JM et al. The pathophysiological mechanism underlying Brugada syndrome Depolarization versus repolarization. J Mol Cell Cardiol 2010; 49: 543–553.

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12. Mádle A. Electrocardiography in the diagnosis of genetic heart diseases – the Brugada syndrome. Vnitř Lék 2002; 48 (Suppl 1): 144–146.

13. Antzelevitch C. Brugada syndrome. Pacing Clin Electrophysiol 2006; 29: 1130–1159.

14. Ariyarajah V, Smith H, Hodge S et al. Spontaneous alternans in Brugada ST-segment morphology within minutes. J Electrocardiol 2008; 41: 302–305.

15. Tatsumi H, Takagi M, Nakagawa E et al. Risk stratification in patients with Brugada syndrome: analysis of daily fluctuations in 12-lead electrocardiogram (ECG) and signal-averaged electrocardiogram (SAECG). J Cardiovasc Electrophysiol 2006; 17: 705–711.

16. Francis J, Antzelevitch C. Atrial fibrillation and Brugada syndrome. J Am Coll Cardiol 2008; 51: 1149–1153.

17. Morita H, Kusano-Fukushima K, Nagase S et al. Atrial fibrillation and atrial vulnerability in patients with Brugada syndrome. J Am Coll Cardiol 2002; 40: 1437–1444.

18. Kusano KF, Taniyama M, Nakamura K et al. Atrial fibrillation in patients with Brugada syndrome relationships of gene mutation, electrophysiology, and clinical back­grounds. J Am Coll Cardiol 2008; 51: 1169–1175.

19. Bordachar P, Reuter S, Garrigue S et al. Incidence, clinical implications and prognosis of atrial arrhythmias in Brugada syndrome. Eur Heart J 2004; 25: 879–884.

20. Morita H, Fukushima-Kusano K, Nagase S et al. Site-specific arrhythmogenesis in patients with Brugada syndrome. J Cardiovasc Electrophysiol 2003; 14: 373–379.

21. Allocca G, Proclemer A, Nucifora G et al. Monomorphic ventricular tachycardia in “Brugada syndrome”: clinical case and literature review. J Cardiovasc Med (Hagerstown) 2008; 9: 842–846.

22. Matsuo K, Kurita T, Inagaki M et al. The circadian pattern of the development of ventricular fibrillation in patients with Brugada syndrome. Eur Heart J 1999; 20: 465–470.

23. Shimizu W, Matsuo K, Takagi M et al. Body surface distribution and response to drugs of ST segment elevation in Brugada syndrome: clinical implication of eighty-seven-lead body surface potential mapping and its application to twelve-lead electrocardiograms. J Cardiovasc Electrophysiol 2000; 11: 396–404.

24. Takigawa M, Noda T, Shimizu W et al. Seasonal and circadian distributions of ventricular fibrillation in patients with Brugada syndrome. Heart Rhythm 2008; 5: 1523–1527.

25. Remme CA, Wever EF, Wilde AA et al. Diagnosis and long-term follow-up of the Brugada syndrome in patients with idio­pathic ventricular fibrillation. Eur Heart J 2001; 22: 400–409.

26. Benito B, Brugada J, Brugada R et al. Brugada syndrome. Rev Esp Cardiol 2009; 62: 1297–1315.

27. Meregalli PG, Wilde AA, Tan HL. Pathophysiological mechanisms of Brugada syndrome: depolarization disorder, repolarization disorder, or more? Cardiovasc Res 2005; 67: 367–378.

28. Yan GX, Antzelevitch C. Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation. Circulation 1999; 100: 1660–1666.

29. Antzelevitch C. The Brugada syndrome: ionic basis and arrhythmia mechanisms. J Cardiovasc Electrophysiol 2001; 12: 268–272.

30. Cordeiro JM, Mazza M, Goodrow R et al. Functionally distinct sodium channels in ventricular epicardial and endocardial cells contribute to a greater sensitivity of the epicardium to electrical depression. Am J Physiol Heart Circ Physiol 2008; 295: H154–H162.

31. Wettwer E, Amos GJ, Posival H et al. Transient outward current in human ventricular myocytes of subepicardial and subendocardial origin. Circ Res 1994; 75: 473–482.

32. Näbauer M, Beuckelmann DJ, Uberfuhr P et al. Regional differences in current density and rate-dependent properties of the transient outward current in subepicardial and subendocardial myocytes of human left ventricle. Circulation 1996; 93: 168–177.

33. Di Diego JM, Cordeiro JM, Goodrow RJ et al. Ionic and cellular basis for the predominance of the Brugada syndrome phenotype in males. Circulation 2002; 106: 2004–2011.

34. Fish JM, Antzelevitch C. Cellular and ionic basis for the sex-related difference in the manifestation of the Brugada syndrome and progressive conduction disease phenotypes. J Electrocardiol 2003; 36 (Suppl): 173–179.

35. Matsuo K, Akahoshi M, Seto S et al. Disappearance of the Brugada-type electrocardiogram after surgical castration: a role for testosterone and an explanation for the male preponderance. Pacing Clin Electrophysiol 2003; 26: 1551–1553.

36. Shimizu W, Matsuo K, Kokubo Y et al. Sex hormone and gender difference – role of testosterone on male predominance in Brugada syndrome. J Cardiovasc Electrophysiol 2007; 18: 415–421.

37. Bai CX, Kurokawa J, Tamagawa M et al. Nontranscriptional regulation of cardiac repolarization currents by testosterone. Circulation 2005; 112: 1701–1710.

38. Fülöp L, Bányász T, Szabó G et al. Effects of sex hormones on ECG parameters and expression of cardiac ion channels in dogs. Acta Physiol (Oxf) 2006; 188: 163–171.

39. Ridley JM, Shuba YM, James AF et al. Modulation by testosterone of an endogenous hERG potassium channel current. J Physiol Pharmacol 2008; 59: 395–407.

40. Nagase S, Kusano KF, Morita H et al. Epicardial electrogram of the right ventricular outflow tract in patients with the Brugada syndrome: using the epicardial lead. J Am Coll Cardiol 2002; 39: 1992–1995.

41. Tukkie R, Sogaard P, Vleugels J et al. Delay in right ventricular activation contributes to Brugada syndrome. Circulation 2004; 109: 1272–1277.

42. Papavassiliu T, Wolpert C, Flüchter S et al. Magnetic resonance imaging findings in patients with Brugada syndrome. J Cardio­vasc Electrophysiol 2004; 15: 1133–1138.

43. Papavassiliu T, Veltmann C, Doesch C et al. Spontaneous type 1 electrocardiographic pattern is associated with cardiovascular magnetic resonance imaging changes in Brugada syndrome. Heart Rhythm 2010; 7: 1790–1796.

44. 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.

45. Chen Q, Kirsch GE, Zhang D et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998; 392: 293–296.

46. Antzelevitch C, Nof E. Brugada syndrome: recent advances and controversies. Curr Cardiol Rep 2008; 10: 376–383.

47. Hedley PL, Jørgensen P, Schlamowitz S et al. The genetic basis of Brugada syndrome: a mutation update. Hum Mutat 2009; 30: 1256–1266.

48. London B, Michalec M, Mehdi H et al. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation 2007; 116: 2260–2268.

49. 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.

50. Delpón E, Cordeiro JM, Núñez L et al. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ Arrhythm Electrophysiol 2008; 1: 209–218.

51. Hu D, Barajas-Martinez H, Burashnikov E et al. A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ Cardiovasc Genet 2009; 2: 270–278.

52. Burashnikov E, Pfeiffer R, Barajas-Martinez H et al. Mutations in the Cardiac L-Type Calcium Channel Associated with Inherited J Wave Syndromes and Sudden Cardiac Death. Heart Rhythm 2010; 7: 1872–1882.

53. 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.

54. Lizotte E, Junttila MJ, Dube MP et al. Genetic modulation of brugada syndrome by a common polymorphism. J Cardiovasc Electrophysiol 2009; 20: 1137–1141.

55. Verkerk AO, Wilders R, Schulze-Bahr E et al. Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome. Cardio­vasc Res 2005; 68: 441–453.

56. Tan HL. Sodium channel variants in heart disease: expanding horizons. J Cardiovasc Electrophysiol 2006; 17 (Suppl 1): S151–S157.

57. 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.

58. Keller DI, Rougier JS, Kucera JP et al. Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations. Cardiovasc Res 2005; 67: 510–519.

59. Abriel H. Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology. J Mol Cell Cardiol 2010; 48: 2–11.

60. Huo J, Zhang Y, Huang N et al. The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells. Pflugers Arch 2008; 456: 917–928.

61. Labro AJ, Boulet IR, Timmermans JP et al. The rate-dependent biophysical properties of the LQT1 H258R mutant are counteracted by a dominant negative effect on channel trafficking. J Mol Cell Cardiol 2010; 48: 1096–1104.

62. 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.

63. Miyoshi S, Mitamura H, Fukuda Y et al. Link between SCN5A mutation and the Brugada syndrome ECG phenotype: simulation study. Circ J 2005; 69: 567–575.

64. 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.

65. Cordeiro JM, Marieb M, Pfeiffer R et al. Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. J Mol Cell Cardiol 2009; 46: 695–703.

66. Fish JM, Antzelevitch C. Role of sodium and calcium channel block in unmasking the Brugada syndrome. Heart Rhythm 2004; 1: 210–217.

67. Yap YG, Behr ER, Camm AJ. Drug-induced Brugada syndrome. Europace 2009; 11: 989–994.

68. Bébarová M, O‘Hara T, Geelen JL et al. Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation. Am J Physiol Heart Circ Physiol 2008; 295: H48–H58.

69. Petitprez S, Jespersen T, Pruvot E et al. Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome. Cardiovasc Res 2008; 78: 494–504.

70. Amin AS, Klemens CA, Verkerk AO et al. Fever-triggered ventricular arrhythmias in Brugada syndrome and type 2 long-QT syndrome. Neth Heart J 2010; 18: 165–169.

71. Postema PG, Wolpert C, Amin AS et al. Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org). Heart Rhythm 2009; 6: 1335–1341.

72. Brugada R, Brugada J, Antzelevitch C et al. Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts. Circulation 2000; 101: 510–515.

73. Veltmann C, Wolpert C, Sacher F et al. Response to intravenous ajmaline: a retrospective analysis of 677 ajmaline challenges. Europace 2009; 11: 1345–1352.

74. Brugada J, Brugada R, Brugada P. Pharmacological and device approach to therapy of inherited cardiac diseases associated with cardiac arrhythmias and sudden death. J Electrocardiol 2000; 33 (Suppl): 41–47.

75. Nademanee K, Veerakul G, Mower M et al. Defibrillator Versus beta-Blockers for Unexplained Death in Thailand (DEBUT): a randomized clinical trial. Circulation 2003; 107: 2221–2226.

76. Sacher F, Probst V, Iesaka Y et al. Outcome after implantation of a cardioverter-defibrillator in patients with Brugada syndrome: a multicenter study. Circulation 2006; 114: 2317–2324.

77. Rosso R, Glick A, Glikson M et al. Israeli Working Group on Cardiac Pacing and Electrophysiology. Outcome after implantation of cardioverter defibrillator in pa­tients with Brugada syndrome: a multicenter Israeli study (ISRABRU). Isr Med Assoc J 2008; 10: 435–439.

78. Sarkozy A, Boussy T, Kourgiannides G et al. Long-term follow-up of primary prophylactic implantable cardioverter-defibrillator therapy in Brugada syndrome. Eur Heart J 2007; 28: 334–344.

79. Krivan L, Kozák M, Sepsi M et al. Specifické komplikace terapie implantabilními kardiovertery defibrilátory. Čas Lék Čes 2004; 143: 521–525.

80. Lin G, Nishimura RA, Gersh BJ et al. Device complications and inappro­priate implantable cardioverter defibrillator shocks in patients with hypertrophic cardiomyopathy. Heart 2009; 95: 709–714.

81. Glikson M, Lipchenca I, Viskin S et al. Long-term outcome of patients who received implantable cardioverter defibrillators for stable ventricular tachycardia. J Cardiovasc Electrophysiol 2004; 15: 658–664.

82. Bailey SM, Wilkoff BL. Complica­tions of pacemakers and defibrillators in the elderly. Am J Geriatr Cardiol 2006; 15: 102–107.

83. Alings M, Dekker L, Sadée A et al. Quinidine induced electrocardiographic normalization in two patients with Brugada syndrome. Pacing Clin Electrophysiol 2001; 24: 1420–1422.

84. Belhassen B, Glick A, Viskin S. Efficacy of quinidine in high-risk patients with Brugada syndrome. Circulation 2004; 110: 1731–1737.

85. Imaizumi Y, Giles WR. Quinidine-induced inhibition of transient outward current in cardiac muscle. Am J Physiol 1987; 253: H704–H708.

86. Wang Z, Fermini B, Nattel S. Effects of flecainide, quinidine, and 4-aminopyridine on transient outward and ultrarapid delayed rectifier currents in human atrial myocytes. J Pharmacol Exp Ther 1995; 272: 184–196.

87. Dukes ID, Morad M. Tedisamil inactivates transient outward K+ current in rat ventricular myocytes. Am J Physiol 1989; 257: H1746–H1749.

88. Ohgo T, Okamura H, Noda T et al. Acute and chronic management in patients with Brugada syndrome associated with electrical storm of ventricular fibrillation. Heart Rhythm 2007; 4: 695–700.

89. Tsuchiya T, Ashikaga K, Honda T et al. Prevention of ventricular fibrillation by cilostazol, an oral phosphodiesterase inhibitor, in a patient with Brugada syndrome. J Cardiovasc Electrophysiol 2002; 13: 698–701.

90. Abud A, Bagattin D, Goyeneche R et al. Failure of cilostazol in the prevention of ventricular fibrillation in a patient with Brugada syndrome. J Cardiovasc Electrophysiol 2006; 17: 210–212.

91. Fish JM, Welchons DR, Kim YS et al. Dimethyl lithospermate B, an extract of Danshen, suppresses arrhythmogenesis associated with the Brugada syndrome. Circulation 2006; 113: 1393–1400.

92. Yoon JY, Ahn SH, Oh H et al. A novel Na+ channel agonist, dimethyl lithospermate B, slows Na+ current inactivation and increases action potential duration in isolated rat ventricular myocytes. Br J Pharmacol 2004; 143: 765–773.

93. Haïssaguerre M, Extramiana F, Hocini M et al. Mapping and ablation of ventricular fibrillation associated with long-QT and Brugada syndromes. Circulation 2003; 108: 925–928.

94. Mlčochová H, Kautzner J, Peichl P et al. Katetrizační ablace fibrilace komor: realita nebo fikce? Kardiol Rev 2006; 8 (Suppl): 43–46.

95. Nademanee K, Veerakul G, Chandanamattha P et al. Prevention of ventricular fibrillation episodes in brugada syndrome by catheter ablation over the anterior right ventricular outflow tract epicardium. Circulation 2011; 123: 1270–1279.

96. Shah AJ, Hocini M, Lamaison D et al. Regional Substrate Ablation Abolishes Brugada Syndrome. J Cardiovasc Electrophysiol 2011; doi: 10.1111/j.1540–8167.2011.02054.x.