Electrical heart disease: Genetic and molecular basis of cardiac arrhythmias in normal structural hearts

Canadian Journal of Cardiology

Volumn 23, Issue SUPPL. A, 2007, Pages 16A-22A

  Farwell, David ^a   Gollob, Michael H ^a  

^a UNIVERSITY OF OTTAWA HEART INSTITUTE   (Canada)

Author keywords

Arrhythmias; Genetics; Sudden cardiac death

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; METOPROLOL; MEXILETINE; NADOLOL; NICORANDIL; PINACIDIL; POTASSIUM; POTASSIUM CHANNEL KCNQ1; PROPRANOLOL; RYANODINE RECEPTOR 2; SODIUM CHANNEL; SODIUM CHANNEL SCN5A; UNCLASSIFIED DRUG; VERAPAMIL;

ANDERSEN SYNDROME; BRUGADA SYNDROME; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CHANNELOPATHY; CLINICAL FEATURE; CONFERENCE PAPER; DEFIBRILLATOR; DISEASE ASSOCIATION; DRUG EFFICACY; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HEART ARRHYTHMIA; HUMAN; LONG QT SYNDROME; PATHOGENESIS; RISK FACTOR; SHORT QT SYNDROME; SUDDEN DEATH;

EID: 34748913724     PISSN: 0828282X     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0828-282x(07)71001-2     Document Type: Conference Paper

References (73)

1. Keating M, Atkinson D, Dunn C, Timothy K, Vincent GM, Leppert M. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 1991;252:704-6.
2. Donger C, Denjoy I, Berthet M, et al. KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. Circulation 1997;96:2778-81.
3. Chen Q, Kirsch GE, Zhang D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998;392:293-6.
4. 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.
5. Laitinen PJ, Brown KM, Piippo K, et al. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001;103:485-90.
6. Gollob MH, Jones DL, Krahn AD, et al. Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N Engl J Med 2006;354:2677-88.
7. 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.
8. Go AS, Hylek EM, Phillips KA, et al. Prevalence of diagnosed atrial fibrillation in adults: National implications for rhythm management and stroke prevention: The AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study. JAMA 2001;285:2370-5.
9. 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.
10. Schulze-Bahr E, Fenge H, Etzrodt D, et al. Long QT syndrome and life threatening arrhythmia in a newborn: Molecular diagnosis and treatment response. Heart 2004;90:13-6.
11. Priori SG, Schwartz PJ, Napolitano C, et al. Risk stratification in the long-QT syndrome. N Engl J Med 2003;348:1866-74.
12. 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.
13. Meissner FL. Taubstummheit und Taubstummenbildung. Heidelberg: Leipzig and Heidelberg, 1856.
14. 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.
15. 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.
16. Ward OC. A new familial cardiac syndrome in children. J Ir Med Assoc 1964;54:103-6.
17. Moss AJ, Schwartz PJ, Crampton RS, Locati E, Carleen E. The long QT syndrome: A prospective international study. Circulation 1985;71:17-21.
18. 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.
19. Wang Q, Shen J, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995;80:805-11.
20. Sanguinetti MC, Curran ME, Zou A, et al. Coassembly of K(V)LQT1 and mink (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 1996;384:80-3.
21. Barhanin J, Lesage F, Guillemare E, Fink M, Lazdunski M, Romey G. K(V)LQT1 and IsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 1996;384:78-80.
22. Abbott GW, Sesti F, Splawski I, et al. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 1999;97:175-87.
23. Andersen ED, Krasilnikoff PA, Overvad H. Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? Acta Paediatr Scand 1971;60:559-64.
24. Tawil R, Ptacek LJ, Pavlakis SG, et al. Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994;35:326-30.
25. 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.
26. Napolitano C, Priori SG, Schwartz PJ, et al. Genetic testing in the long QT syndrome: Development and validation of an efficient approach to genotyping in clinical practice. JAMA 2005;294:2975-80.
27. Splawski I, Shen J, Timothy KW, et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000;102:1178-85.
28. 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.
29. 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.
30. Moss AJ, Robinson JL, Gessman L, et al. 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 1999;84:876-9.
31. Moss AJ, Zareba W, Hall WJ, et al. Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation 2000;101:616-23.
32. Dorostkar PC, Eldar M, Belhassen B, Scheinman MM. Long-term follow-up of patients with long-QT syndrome treated with beta-blockers and continuous pacing. Circulation 1999;100:2431-6.
33. Schwartz PJ, Priori SG, Locati EH, et al. Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation 1995;92:3381-6.
34. 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.
35. Kehl HG, Haverkamp W, Rellensmann G, et al. Images in cardiovascular medicine. Life-threatening neonatal arrhythmia: Successful treatment and confirmation of clinically suspected extreme long QT-syndrome-3. Circulation 2004;109:e205-6.
36. Fujimoto Y, Morita H, Fukushima KK, Ohe T. Nicorandil abolished repolarisation alternans in a patient with idiopathic long QT syndrome. Heart 1999;82:e8.
37. Fish FA, Prakash C, Roden DM. Suppression of repolarization-related arrhythmias in vitro and in vivo by low-dose potassium channel activators. Circulation 1990;82:1362-9.
38. Compton SJ, Lux RL, Ramsey MR, et al. Genetically defined therapy of inherited long-QT syndrome. Correction of abnormal repolarization by potassium. Circulation 1996;94:1018-22.
39. Etheridge SP, Compton SJ, Tristani-Firouzi M, Mason JW. A new oral therapy for long QT syndrome: Long-term oral potassium improves repolarization in patients with HERG mutations. J Am Coll Cardiol 2003;42:1777-82.
40. Osher HL, Wolff L. Electrocardiographic pattern simulating acute myocardial injury. Am J Med Sci 1953;226:541-5.
41. Martini B, Nava A, Thiene G, et al. Ventricular fibrillation without apparent heart disease: Description of six cases. Am Heart J 1989;118:1203-9.
42. 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.
43. Brugada J, Brugada R, Brugada P. Right bundle-branch block and ST-segment elevation in leads V1 through V3: A marker for sudden death in patients without demonstrable structural heart disease. Circulation 1998;97:457-60.
44. Atarashi H, Ogawa S, Harumi K, et al; Idiopathic Ventricular Fibrillation Investigators. 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. J Am Coll Cardiol 2001;37:1916-20.
45. 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.
46. Antzelevitch C, Brugada P, Brugada J, et al. Brugada syndrome: A decade of progress. Circ Res 2002;91:1114-8.
47. Atarashi H, Ogawa S, Harumi K, et al. Characteristics of patients with right bundle branch block and ST-segment elevation in right precordial leads. Idiopathic Ventricular Fibrillation Investigators. Am J Cardiol 1996;78:581-3.
48. Matsuo K, Akahoshi M, Seto S, Yano K. 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(7 Pt 1):1551-3.
49. 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;20:465-70.
50. Itoh H, Shimizu M, Ino H, et al; Hokuriku Brugada Study Group. Arrhythmias in patients with Brugada-type electrocardiographic findings. Jpn Circ J 2001;65:483-6.
51. 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.
52. Plunkett A, Hulse JA, Mishra B, Gill J. Variable presentation of Brugada syndrome: Lessons from three generations with syncope. BMJ 2003;326:1078-9.
53. 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.
54. Antzelevitch C. The Brugada syndrome: Ionic basis and arrhythmia mechanisms. J Cardiovasc Electrophysiol 2001;12:268-72.
55. Priori SG, Napolitano C, Gasparini M, et al. Natural history of Brugada syndrome: Insights for risk stratification and management. Circulation 2002;105:1342-7.
56. Balser JR. The cardiac sodium channel: Gating function and molecular pharmacology. J Mol Cell Cardiol 2001;33:599-613.
57. 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;105:707-13.
58. 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. (Erratum in 2005;26:61)
59. 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.
60. Fisher JD, Krikler D, Hallidie-Smith KA. Familial polymorphic ventricular arrhythmias: A quarter century of successful medical treatment based on serial exercise-pharmacologic testing. J Am Coll Cardiol 1999;34:2015-22.
61. 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.
62. Wennevold A, Melchior JC, Sandoe E. Adams-Stokes syndrome in children without organic heart disease: Electrocardiogram after exercise as a diagnostic tool. Acta Med Scand 1965;177:557-63.
63. Horan M, Venables AW. Paroxysmal tachycardia with episodic unconsciousness. Arch Dis Child 1962;37:82-5.
64. Reid DS, Tynan M, Braidwood L, Fitzgerald GR. Bidirectional tachycardia in a child. A study using His bundle electrography. Br Heart J 1975;37:339-44.
65. Coumel P, Fidelle J, Lucet V, Attuel P, Bouvrain Y. Catecholamine-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: Report of four cases. Br Heart J 1978;40(Suppl):28-37.
66. Nakajima T, Kaneko Y, Taniguchi Y, et al. The mechanism of catecholaminergic polymorphic ventricular tachycardia may be triggered activity due to delayed afterdepolarization. Eur Heart J 1997;18:530-1.
67. 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.
68. 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.
69. Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002;106:69-74.
70. Bauce B, Rampazzo A, Basso C, et al. Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: Early diagnosis of asymptomatic carriers. J Am Coll Cardiol 2002;40:341-9.
71. Marx SO, Reiken S, Hisamatsu Y, et al. PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): Defective regulation in failing hearts. Cell 2000;101:365-76.
72. Hunt DJ, Jones PP, Wang R, et al. K201 (JTV519) suppresses spontaneous Ca2+ release and [3H]ryanodine binding to RyR2 irrespective of FKBP12.6 association. Biochem J 2007;404:431-8.
73. Priori SG, Napolitano C. Intracellular calcium handling dysfunction and arrhythmogenesis: A new challenge for the electrophysiologist. Circ Res 2005;97:1077-9.