Sudden cardiac death: What is inside our genes?

Canadian Journal of Cardiology

Volumn 21, Issue 12, 2005, Pages 1099-1110

  Sarkozy, Andrea ^a   Brugada, Pedro ^a  

^a CARDIOVASCULAR CENTER   (Belgium)

Author keywords

Brugada syndrome; Channelopathy; Long QT syndrome; Sudden cardiac death

Indexed keywords

AGE; AUTOPSY; BRUGADA SYNDROME; CHANNELOPATHY; CLINICAL FEATURE; CONFERENCE PAPER; GENE MUTATION; GENETIC LINKAGE; HEART ARRHYTHMIA; HEART VENTRICLE FIBRILLATION; HEART VENTRICLE TACHYCARDIA; HUMAN; IDIOPATHIC DISEASE; INCIDENCE; LONG QT SYNDROME; PHENOTYPE; RARE DISEASE; SHORT QT SYNDROME; SUDDEN DEATH; SUDDEN INFANT DEATH SYNDROME; SYNDROME;

BUNDLE-BRANCH BLOCK; DEATH, SUDDEN, CARDIAC; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEART CONDUCTION SYSTEM; HUMANS; LONG QT SYNDROME; PHENOTYPE; TACHYCARDIA, VENTRICULAR; VENTRICULAR FIBRILLATION;

EID: 28444472701     PISSN: 0828282X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (111)

1. Myerburg RJ, Castellanos A. Cardiac arrest and sudden cardiac death. In: Braunwald E, Zipes DP, Libby P, eds. Heart Disease, 6th edn. Philadelphia: WB Saunders, 2001:890.
2. Myerburg RJ. Sudden cardiac death: Exploring the limits of our knowledge. J Cardiovasc Electrophysiol 2001;12:369-81.
3. Liberthson RR. Sudden death from cardiac causes in children and young adults. N Engl J Med 1996;334:1039-44.
4. Morentin B, Suarez-Mier MP, Aguilera B. Sudden unexplained death among persons 1-35 years old. Forensic Sci Int 2003;135:213-7.
5. Behr E, Wood DA, Wright M, et al; Sudden Arrhythmic Death Syndrome Steering Group. Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet 2003;362:1457-9.
6. Chugh SS, Senashova O, Watts A, et al. Postmortem molecular screening in unexplained sudden death J Am Coll Cardiol 2004;43:1625-9.
7. Di Paolo M, Luchini D, Bloise R, et al. Postmortem molecular analysis in victims of sudden unexplained death. Am J Forensic Med Pathol 2004;25:182-4.
8. Tester DJ, Spoon DB, Valdivia HH, Makielski JC, Ackerman MJ. Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: A molecular autopsy of 49 medical examiner/coroner's case. Mayo Clin Proc 2004;79:1380-4.
9. 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.
10. Romano C, Gemme G, Pongiglione R. [Rare cardiac arrythmias of the pediatric age. II. Syncopal attacks due to paroxysmal ventricular fibrillation. (Presentation of 1st case in Italian pediatric literature).] Clin Pediatr (Bologna) 1963;45:656-83.
11. Ward O. A new familial cardiac syndrome in children. J Ir Med Assoc 1964;54:103-6.
12. Curran ME, Splawski I, Timothy KW, et al. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995;80:795-803.
13. Wang Q, Shen J, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995;80:805-11.
14. Keating MT, Sanguinetti MC. Molecular and cellular mechanisms of cardiac arrhythmias. Cell 2001;104:569-80.
15. Roden DM, Balser JR, George AL, et al. Cardiac ion channels. Annu Rev Physiol 2002;64:431-75.
16. Marban E. Cardiac channelopathies. Nature 2002;415:213-8.
17. Schwartz PJ, Moss AJ, Vincent GM, Crampton RS. Diagnostic criteria for the long QT syndrome. An update. Circulation 1993;88:782-4.
18. Moss AJ. Long QT syndrome. JAMA 2003;289:2041-4.
19. Fondazione Salvatore Maugeri. Istituto di Ricovero e Cura a Carattere Scientifico. Gene Connection for the Heart: A Project of the Study Group on Molecular Basis of Arrhythmias. (Version current at September 15, 2005).
20. Splawski I, Shen J, Timothy KW, et al. Spectrum of mutations in long-QT syndrome genes: KVLOT1, HERG, SCN5A, KCNE1 and KCNE2. Circulation 2000;102:1178-85.
21. Wang Q, Curran ME, Splawski I, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 1996;12:17-23.
22. Neyroud N, Tesson F, Denjoy I, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet 1997;15:186-9.
23. Ks function. Nat Genet 1997;17:338-40.
24. Schulze-Bahr E, Wang Q, Wedekind H, et al. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nat Genet 1997;17:267-8.
25. Tester DJ, Will ML, Haglund CM, Ackerman MJ. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2005;2:507-17.
26. Kr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 1999;97:175-87.
27. Mohler PJ, Schott JJ, Gramolini AO, et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 2003;421:634-9.
28. Mohler PJ, Splawski I, Napolitano C, et al. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci USA 2004;101:9137-42.
29. 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;105:511-9.
30. Tawil R, Ptacek LJ, Pavlakis SG, et al. Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmoprhic features. Ann Neurol 1994;35:326-30.
31. 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.
32. Moss AJ, Zareba W, Benhorin J, et al. ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation 1995;92:2929-34.
33. Priori SG, Schwartz PJ, Napolitano C, et al. Risk stratification in the long-QT syndrome. N Engl J Med 2003;348:1866-74.
34. Zhang L, Timothy KW, Vincent GM, et al. Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation 2000;102:2849-55.
35. Schwartz PJ, Priori SG, Spazzolini C, et al. Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias. Circulation 2001;103:89-95.
36. Choi G, Kopplin LJ, Tester DJ, Will ML, Haglund CM, Ackerman MJ. Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation 2004;110:2119-24.
37. Shimizu W, Noda T, Takaki H, et al. Diagnostic value of epinephrine test for genotyping LQT1, LQT2, and LQT3 forms of congenital long QT syndrome. Heart Rhythm 2004;1:276-83.
38. Shimizu W, Noda T, Takaki H, et al. Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome. J Am Coll Cardiol 2003;41:633-42.
39. 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;292:1341-4.
40. Khositseth A, Tester DJ, Will ML, Bell CM, Ackerman MJ. Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm 2004;1:60-4.
41. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long-QT syndrome: Clinical impact. Circulation 1999;99:529-33.
42. Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC. Compound mutations: A common cause of severe long-QT syndrome. Circulation 2004;109:1834-41.
43. Schwartz PJ, Priori SG, Napolitano C. How really rare are rare diseases?: The intriguing case of independent compound mutations in the long QT syndrome. J Cardiovasc Electrophysiol 2003;14:1120-1.
44. Splawski I, Timothy KW, Tateyama M, et al. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 2002;297:1333-6.
45. Gussak I, Brugada P, Brugada J, et al. Idiopathic short QT interval: A new clinical syndrome? Cardiology 2000;94:99-102.
46. Gaita F, Giustetto C, Bianchi F, et al. Short QT syndrome: A familial cause of sudden death. Circulation 2003;108:965-70.
47. Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M. Short QT syndrome. Cardiovasc Res 2005;67:357-66.
48. Bellocq C, van Ginneken A, Bezzina CR, et al. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 2004;109:2394-7.
49. 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;96:800-7.
50. Brugada R, Hong K, Dumaine R, et al. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation 2004;109:30-5.
51. Chen YH, Xu SJ, Bendahhou S, et al. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 2003;299:251-4.
52. 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;91:1512-9.
53. Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002;106:69-74.
54. Sumitomo N, Harada K, Nagashima M, et al. Catecholaminergic polymorphic ventricular tachycardia: Electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. Heart 2003;89:66-70.
55. Swan H, Piippo K, Viitasalo M, et al. Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol 1999;34:2035-42.
56. Priori SG, Napolitano C, Tiso N, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001;103:196-200.
57. Lehnart SE, Wehrens XH, Laitinen PJ, et al. Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak. Circulation 2004;109:3208-14.
58. Tiso N, Stephan DA, Nava A, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001;10:189-94.
59. Lahat H, Eldar M, Levy-Nissenbaum E, et al. Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: Clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation 2001;103:2822-7.
60. Postma AV, Denjoy I, Hoorntje TM, et al. Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ Res 2002;91:e21-6.
61. Schott J, Alshinawi C, Kyndt F, et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999;23:20-1.
62. Tan HL, Bink-Boelkens M, Bezzina CR, et al. A sodium-channel mutation causes isolated cardiac conduction disease. Nature 2001;409:1043-7.
63. Wang DW, Viswanathan PC, Balser JR, George AL Jr, Benson DW. Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation 2002;105:341-6.
64. Bezzina CR, Rook MB, Groenewegen WA, et al. Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. Circ Res 2003;92:159-68.
65. Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol 1992;20:1391-6.
66. Brugada J, Brugada R, Antzelevitch C, Towbin J, Nademanee K, Brugada P. Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and ST-segment elevation in precordial leads V1 to V3. Circulation 2002;105:73-8.
67. Brugada J, Brugada R, Brugada P. Determinants of sudden cardiac death in individuals with the electrocardiographic pattern of Brugada syndrome and no previous cardiac arrest. Circulation 2003;108:3092-6.
68. Junttila MJ, Raatikainen MJ, Karjalainen J, Kauma H, Kesaniemi YA, Huikuri HV. Prevalence and prognosis of subjects with Brugada-type ECG pattern in a young and middle-aged Finnish population. Eur Heart J 2004;25:874-8.
69. Hermida JS, Lemoine JL, Aoun FB, Jarry G, Rey JL, Quiret JC. Prevalence of the brugada syndrome in an apparently healthy population. Am J Cardiol 2000;86:91-4.
70. 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;38:765-70.
71. Miyasaka Y, Tsuji H, Yamada K, et al. Prevalence and mortality of the Brugada-type electrocardiogram in one city in Japan. J Am Coll Cardiol 2001;38:771-4.
72. Furuhashi M, Uno K, Tsuchihashi K, et al. Prevalence of asymptomatic ST segment elevation in right precordial leads with right bundle branch block (Brugada-type ST shift) among the general Japanese population. Heart 2001;86:161-6.
73. Atarashi H, Ogawa S, Harumi K, et al. Three-year follow-up of patients with right bundle branch block and ST segment elevation in the right precordial leads: Japanese Registry of Brugada Syndrome. Idiopathic Ventricular Fibrillation Investigators. J Am Coll Cardiol 2001;37:1916-20.
74. Wilde AA, Antzelevitch C, Borggrefe M, et al; Study Group on the Molecular Basis of Arrhythmias of the European Society of Cardiology. Proposed diagnostic criteria for the Brugada syndrome: Consensus report. Circulation 2002;106:2514-9.
75. Antzelevitch C, Brugada P, Borggrefe M, et al; Heart Rhythm Society; European Heart Rhythm Association. Brugada syndrome: Report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 2005;111:659-70.
76. Brugada R, Brugada J, Antzelevich 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;101:510-5.
77. Wolpert C, Echternach C, Veltmann C, et al. Intravenous drug challenge using flecainide and ajmaline in patients with Brugada syndrome. Heart Rhythm 2005;2:254-60.
78. Priori S, Napolitano C, Gasparini M, et al. Natural history of Brugada syndrome: Insights for risk stratification and management. Circulation 2002;105:1342-7.
79. Eckardt L, Probst V, Smits JP, et al. Long-term prognosis of individuals with right precordial ST-segment-elevation Brugada syndrome. Circulation 2005;111:257-63.
80. Priori SG, Napolitano C, Gasparini M, et al. Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation 2000;102:2509-15.
81. Smits JP, Eckardt L, Probst V, et al. Genotype-phenotype relationship in Brugada syndrome: Electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol 2002;40:350-6.
82. Chen Q, Kirsch GE, Zhang D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998;392:293-6.
83. Antzelevitch C, Brugada P, Brugada J, Brugada R, Towbin JA, Nademanee K. Brugada syndrome: 1992-2002: A historical perspective. J Am Coll Cardiol 2003;41:1665-71.
84. 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;85:803-9.
85. Schulze-Bahr E, Eckardt L, Breithardt G, et al. Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease. Hum Mutat 2003;21:651-2.
86. 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;110:3023-7.
87. Hong K, Berruezo-Sanchez A, Poungvarin N, et al. Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A. J Cardiovasc Electrophysiol 2004;15:64-9.
88. Nademanee K, Veerakul G, Nimmannit S, et al. Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men. Circulation 1997;96:2595-600.
89. 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;11:337-45.
90. Kyndt F, Probst V, Potet F, et al. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family, Circulation 2001;104:3081-6.
91. Bezzina C, Veldkamp MW, van Den Berg MP, et al. A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res 1999;85:1206-13.
92. 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;110:1201-9.
93. Antzelevitch C, Fish J. Electrical heterogeneity within the ventricular wall. Basic Res Cardiol 2001;96:517-27.
94. Viswanathan PC, Balser JR. Inherited sodium channelopathies: A continuum of channel dysfunction. Trends Cardiovasc Med 2004;14:28-35.
95. Krous HF, Beckwith JB, Byard RW, et al. Sudden infant death syndrome and unclassified sudden infant deaths: A definitional and diagnostic approach. Pediatrics 2004;114:234-8.
96. Daley KC. Update on sudden infant death syndrome. Curr Opin Pediatr 2004;16:227-32.
97. Opdal SH, Rognum TO. New insight into sudden infant death syndrome. Lancet 2004;364:825-6.
98. Schwartz PJ, Stramba-Badiale M, Segantini A, et al. Prolongation of the QT interval and sudden infant death syndrome. N Engl J Med 1998;338:1709-14.
99. Lucey JF. Comments on a sudden infant death article in another journal. Pediatrics 1999;103:812.
100. Herlitz J, Engdahl J, Svensson L, Young M, Angquist KA, Holmberg S. Characteristics and outcome among children suffering from out of hospital cardiac arrest in Sweden. Resuscitation 2005;64:37-40.
101. Schwartz PJ, Priori SG, Bloise R, et al. Molecular diagnosis in a child with sudden infant death syndrome. Lancet 2001;358:1342-3.
102. Ackerman MJ, Siu BL, Sturner WQ, et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 2001;286:2264-9.
103. Schwartz PJ, Priori SG, Dumaine R, et al. A molecular link between the sudden infant death syndrome and the long-QT syndrome. N Engl J Med 2000;343:262-7.
104. Priori SG, Napolitano C, Giordano U, Collisani G, Memmi M. Brugada syndrome and sudden cardiac death in children. Lancet 2000;355:808-9.
105. Joint Steering Commitees of the Unexplained Cardiac Arrest Registry of Europe and the Idiopathic Ventricular Fibrillation Registry of the United States. Survivors of out-of-hospital cardiac arrest with apparently normal heart. Need for definition and standardized clinical evaluation. Consensus Statement of the Joint Steering Committees of the Unexplained Cardiac Arrest Registry of Europe and of the Idiopathic Ventricular Fibrillation Registry of the United States. Circulation 1997;95:265-72.
106. Viskin S, Fish R, Eldar M, et al. Prevalence of the Brugada sign in idiopathic ventricular fibrillation and healthy controls. Heart 2000;84:31-6.
107. Remme CA, Wever EF, Wilde AA, Derksen R, Hauer RN. Diagnosis and long-term follow-up of the Brugada syndrome in patients with idiopathic ventricular fibrillation. Eur Heart J 2001;22:400-9.
108. Akai J, Makita N, Sakurada H, et al. A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. FEBS Lett 2000;479:29-34.
109. Fujiki A, Sugao M, Nishida K, et al. Repolarization abnormality in idiopathic ventricular fibrillation: assessment using 24-hour QT-RR and QaT-RR relationships. J Cardiovasc Electrophysiol 2004;15:59-63.
110. Viskin S, Zeltser D, Ish-Shalom M, et al. Is idiopathic ventricular fibrillation a short QT syndrome? Comparison of QT intervals of patients with idiopathic ventricular fibrillation and healthy controls. Heart Rhythm 2004;1:587-91.
111. Pasquie JL, Sanders P, Hocini M, et al. Fever as a precipitant of idiopathic ventricular fibrillation in patients with normal hearts. J Cardiovasc Electrophysiol 2004;15:1271-6.