Systems biology and cardiac arrhythmias

The Lancet

Volumn 380, Issue 9852, 2012, Pages 1498-1508

  Grace, Andrew A ^a,b   Roden, Dan M ^c  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b PAPWORTH HOSPITAL   (United Kingdom)

^c VANDERBILT UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL NAV1.5;

ARTICLE; CARDIOVASCULAR RISK; ELECTROCARDIOGRAPHY; HEART ARRHYTHMIA; HEART CONDUCTION; HEART OUTPUT; HEART REPOLARIZATION; HEART RHYTHM; HUMAN; LONG QT SYNDROME; NONHUMAN; PHENOTYPE; POPULATION GENETICS; PREDICTION; PRIORITY JOURNAL; PROFESSIONAL KNOWLEDGE;

EID: 84867833223     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(12)61462-7     Document Type: Review

References (100)

1. Lee G, Sanders P, Kalman JM. Catheter ablation of cardiac arrhythmias: state of the art. Lancet 2012; 380: 1509-19.
2. John RM, Tedrow UB, Koplan BA, et al. Ventricular arrhythmias and sudden cardiac death. Lancet 2012; 380: 1520-29.
3. Delacretaz E. Supraventricular tachycardia. N Engl J Med 2006; 354: 1039-51.
4. Chugh SS. Early identification of risk factors for sudden cardiac death. Nat Rev Cardiol 2010; 7: 318-26.
5. Dobrev D, Carlsson L, Nattel S. Novel molecular targets for atrial fibrillation therapy. Nat Rev Drug Discov 2012; 11: 275-91.
6. Rudy Y, Ackerman MJ, Bers DM, et al. Systems approach to understanding electromechanical activity in the human heart: a national heart, lung, and blood institute workshop summary. Circulation 2008; 118: 1202-11.
7. Dow LE, Lowe SW. Life in the fast lane: mammalian disease models in the genomics era. Cell 2012; 148: 1099-109.
8. Cherry ABC, Daley GQ. Reprogramming cellular identity for regenerative medicine. Cell 2012; 148: 1110-22.
9. Noble D. Biophysics and systems biology. Philos Transact A Math Phys Eng Sci 2010; 368: 1125-39.
10. Weiss JN, Nivala M, Garfinkel A, Qu Z. Alternans and arrhythmias: from cell to heart. Circ Res 2011; 108: 98-112.
11. Papadatos GA, Wallerstein PM, Head CE, et al. Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a. Proc Natl Acad Sci USA 2002; 99: 6210-15.
12. Watanabe H, Yang T, Stroud DM, et al. Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. Circulation 2011; 124: 1001-11.
13. Jeyaraj D, Haldar SM, Wan X, et al. Circadian rhythms govern cardiac repolarization and arrhythmogenesis. Nature 2012; 483: 96-99.
14. Magnani J W, Rienstra M, Lin H, et al. Atrial fibrillation: current knowledge and future directions in epidemiology and genomics. Circulation 2011; 124: 1982-93.
15. Rienstra M, Lubitz SA, Mahida S, et al. Symptoms and functional status of patients with atrial fibrillation: state of the art and future research opportunities. Circulation 2012; 125: 2933-43.
16. Bloch Thomsen PE, Jons C, Raatikainen MJ, et al, for the CARISMA Study Group. Long-term recording of cardiac arrhythmias with an implantable cardiac monitor in patients with reduced ejection fraction after acute myocardial infarction: the cardiac arrhythmias and risk stratification after acute myocardial infarction (CARISMA) study. Circulation 2010; 122: 1258-64.
17. Nurse P, Hayles J. The cell in an era of systems biology. Cell 2011; 144: 850-54.
18. Chan SY, Loscalzo J. The emerging paradigm of network medicine in the study of human disease. Circ Res 2012; 111: 359-74.
19. Kathiresan S, Srivastava D. Genetics of human cardiovascular disease. Cell 2012; 148: 1242-57.
20. Jung CB, Moretti A, Mederos YSM, et al. Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia. EMBO Mol Med 2012; 4: 180-91.
21. Watanabe H, Chopra N, Laver D, et al. Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans. Nat Med 2009; 15: 380-83.
22. Zhou Q, Xiao J, Jiang D, et al. Carvedilol and its new analogs suppress arrhythmogenic store overload-induced Ca2+ release. Nat Med 2011; 17: 1003-09.
23. O'Hara T, Virag L, Varro A, Rudy Y. Simulation of the undiseased human cardiac ventricular action potential: model formulation and experimental validation. PLoS Comput Biol 2011; 7: e1002061.
24. Grandi E, Pandit SV, Voigt N, et al. Human atrial action potential and Ca2+ model: sinus rhythm and chronic atrial fibrillation. Circ Res 2011; 109: 1055-66.
25. Thul R, Coombes S, Roderick HL, Bootman MD. Subcellular calcium dynamics in a whole-cell model of an atrial myocyte. Proc Natl Acad Sci USA 2012; 109: 2150-55.
26. Moreno JD, Zhu ZI, Yang PC, et al. A computational model to predict the effects of class I anti-arrhythmic drugs on ventricular rhythms. Sci Transl Med 2011; 3: 98ra83.
27. Stefansdottir H, Aspelund T, Gudnason V, Arnar DO. Trends in the incidence and prevalence of atrial fibrillation in Iceland and future projections. Europace 2011; 13: 1110-17.
28. Miyasaka Y, Barnes ME, Gersh BJ, et al. Secular trends in incidence of atrial fibrillation in Olmsted County, Minnesota, 1980 to 2000, and implications on the projections for future prevalence. Circulation 2006; 114: 119-25.
29. Wang TJ, Parise H, Levy D, et al. Obesity and the risk of new-onset atrial fibrillation. JAMA 2004; 292: 2471-77.
30. Nichols GA, Reinier K, Chugh SS. Independent contribution of diabetes to increased prevalence and incidence of atrial fibrillation. Diabetes Care 2009; 32: 1851-56.
31. Noseworthy PA, Newton-Cheh C. Genetic determinants of sudden cardiac death. Circulation 2008; 118: 1854-63.
32. 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: 2370-75.
33. Tedrow UB, Conen D, Ridker PM, et al. The long-and short-term impact of elevated body mass index on the risk of new atrial fibrillation the WHS (women's health study). J Am Coll Cardiol 2010; 55: 2319-27.
34. Kong MH, Fonarow GC, Peterson ED, et al. Systematic review of the incidence of sudden cardiac death in the United States. J Am Coll Cardiol 2011; 57: 794-801.
35. Jouven X, Lemaitre RN, Rea TD, Sotoodehnia N, Empana JP, Siscovick DS. Diabetes, glucose level, and risk of sudden cardiac death. Eur Heart J 2005; 26: 2142-47.
36. Keating MT, Sanguinetti MC. Molecular and cellular mechanisms of cardiac arrhythmias. Cell 2001; 104: 569-80.
37. Ackerman MJ, Mohler PJ. Defining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel-and transporter-associated proteins. Circ Res 2010; 107: 457-65.
38. Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995; 80: 795-803.
39. Wang Q, Shen J, Splawski I, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995; 80: 805-11.
40. Schwartz PJ, Crotti L, Insolia R. Long-QT syndrome: from genetics to management. Circ Arrhythm Electrophysiol 2012; 5: 868-77.
41. 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.
42. Vandenberg JI, Perry MD, Perrin MJ, Mann SA, Ke Y, Hill AP. hERG K+ channels: structure, function, and clinical significance. Physiol Rev 2012; 92: 1393-478.
43. Moretti A, Bellin M, Welling A, et al. Patient-specific induced pluripotent stem-cell models for long-QT syndrome. N Engl J Med 2010; 363: 1397-409.
44. Itzhaki I, Maizels L, Huber I, et al. Modelling the long QT syndrome with induced pluripotent stem cells. Nature 2011; 471: 225-29.
45. Brink PA, Crotti L, Corfield V, et al. Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. Circulation 2005; 112: 2602-10.
46. Golbus JR, Puckelwartz MJ, Fahrenbach JP, Dellefave-Castillo LM, Wolfgeher D, McNally EM. Population-based variation in cardiomyopathy genes. Circ Cardiovasc Genet 2012; 5: 391-99.
47. Chen Q, Kirsch GE, Zhang D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998; 392: 293-96.
48. Cerrone M, Napolitano C, Priori SG. Catecholaminergic polymorphic ventricular tachycardia: a paradigm to understand mechanisms of arrhythmias associated to impaired Ca(2+) regulation. Heart Rhythm 2009; 6: 1652-59.
49. Haissaguerre M, Derval N, Sacher F, et al. Sudden cardiac arrest associated with early repolarization. N Engl J Med 2008; 358: 2016-23.
50. Delmar M, McKenna WJ. The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease. Circ Res 2010; 107: 700-14.
51. Watkins H, Ashrafian H, Redwood C. Inherited cardiomyopathies. N Engl J Med 2011; 364: 1643-56.
52. Dewey FE, Pan S, Wheeler MT, Quake SR, Ashley EA. DNA sequencing: clinical applications of new DNA sequencing technologies. Circulation 2012; 125: 931-44.
53. Holm H, Gudbjartsson DF, Sulem P, et al. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet 2011; 43: 316-20.
54. Jons C, O-Uchi J, Moss AJ, et al. Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients. Sci Transl Med 2011; 3: 76ra28.
55. Barsheshet A, Goldenberg I, O-Uchi J, et al. Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to beta-blocker therapy in type-1 long-QT syndrome. Circulation 2012; 125: 1988-96.
56. Kannankeril P, Roden DM, Darbar D. Drug-induced long QT syndrome. Pharmacol Rev 2010; 62: 760-81.
57. Kääb S, Crawford DC, Sinner MF, et al. A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ Cardiovasc Genet 2012; 5: 91-99.
58. 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: 1391-96.
59. Ellinor PT, Lunetta KL, Albert CM, et al. Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet 2012; 44: 670-75.
60. Sotoodehnia N, Isaacs A, de Bakker PI, et al. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet 2010; 42: 1068-76.
61. Mommersteeg MT, Brown NA, Prall OW, et al. Pitx2c and Nkx2-5 are required for the formation and identity of the pulmonary myocardium. Circ Res 2007; 101: 902-09.
62. Holm H, Gudbjartsson DF, Arnar DO, et al. Several common variants modulate heart rate, PR interval and QRS duration. Nat Genet 2010; 42: 117-22.
63. Pfeufer A, van Noord C, Marciante KD, et al. Genome-wide association study of PR interval. Nat Genet 2010; 42: 153-59.
64. Chambers JC, Zhao J, Terracciano CM, et al. Genetic variation in SCN10A influences cardiac conduction. Nat Genet 2010; 42: 149-52.
65. Noseworthy PA, Havulinna AS, Porthan K, et al. Common genetic variants, QT interval, and sudden cardiac death in a Finnish population-based study. Circ Cardiovasc Genet 2011; 4: 305-11.
66. Kao WH, Arking DE, Post W, et al. Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation 2009; 119: 940-51.
67. Cheng S, Keyes MJ, Larson MG, et al. Long-term outcomes in individuals with prolonged PR interval or first-degree atrioventricular block. JAMA 2009; 301: 2571-77.
68. Denny JC, Ritchie MD, Crawford DC, et al. Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. Circulation 2010; 122: 2016-21.
69. Ritchie MD, Rowan S, Kucera G, et al. Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. J Am Coll Cardiol 2012; 60: 1173-81.
70. Darbar D, Kannankeril PJ, Donahue BS, et al. Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation 2008; 117: 1927-35.
71. Gudbjartsson DF, Arnar DO, Helgadottir A, et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 2007; 448: 353-57.
72. Chinchilla A, Daimi H, Lozano-Velasco E, et al. PITX2 insufficiency leads to atrial electrical and structural remodeling linked to arrhythmogenesis. Circ Cardiovasc Genet 2011; 4: 269-79.
73. Kirchhof P, Kahr PC, Kaese S, et al. PITX2c is expressed in the adult left atrium, and reducing Pitx2c expression promotes atrial fibrillation inducibility and complex changes in gene expression. Circ Cardiovasc Genet 2011; 4: 123-33.
74. Jouven X, Desnos M, Guerot C, Ducimetiere P. Predicting sudden death in the population: the Paris prospective study I. Circulation 1999; 99: 1978-83.
75. Bezzina CR, Pazoki R, Bardai A, et al. Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction. Nat Genet 2010; 42: 688-91.
76. Albert CM, MacRae CA, Chasman DI, et al. Common variants in cardiac ion channel genes are associated with sudden cardiac death. Circ Arrhythm Electrophysiol 2010; 3: 222-29.
77. Westaway SK, Reinier K, Huertas-Vazquez A, et al. Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease. Circ Cardiovasc Genet 2011; 4: 397-402.
78. Newton-Cheh C, Cook NR, VanDenburgh M, Rimm EB, Ridker PM, Albert CM. A common variant at 9p21 is associated with sudden and arrhythmic cardiac death. Circulation 2009; 120: 2062-68.
79. Murray SS, Smith EN, Villarasa N, et al. Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias. PLoS One 2012; 7: e25387.
80. Mann SA, Otway R, Guo G, et al. Epistatic effects of potassium channel variation on cardiac repolarization and atrial fibrillation risk. J Am Coll Cardiol 2012; 59: 1017-25.
81. Narayan SM, Krummen DE, Shivkumar K, Clopton P, Rappel WJ, Miller JM. Treatment of atrial fibrillation by the ablation of localized sources: CONFIRM (conventional ablation for atrial fibrillation with or without focal impulse and rotor modulation) trial. J Am Coll Cardiol 2012; 60: 628-36.
82. Maurits CEF, Wijffels MC, Kirchhof CJ, Dorland R, Allessie MA. Atrial fibrillation begets atrial fibrillation. A study in awake chronically instrumented goats. Circulation 1995; 92: 1954-68.
83. Wakili R, Voigt N, Kaab S, Dobrev D, Nattel S. Recent advances in the molecular pathophysiology of atrial fibrillation. J Clin Invest 2011; 121: 2955-68.
84. Schotten U, Verheule S, Kirchhof P, Goette A. Pathophysiological mechanisms of atrial fibrillation: a translational appraisal. Physiol Rev 2011; 91: 265-325.
85. Xie Y, Sato D, Garfinkel A, Qu Z, Weiss JN. So little source, so much sink: requirements for afterdepolarizations to propagate in tissue. Biophys J 2010; 99: 1408-15.
86. Herron TJ, Lee P, Jalife J. Optical imaging of voltage and calcium in cardiac cells & tissues. Circ Res 2012; 110: 609-23.
87. Chen R, Mias GI, Li-Pook-Than J, et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell 2012; 148: 1293-307.
88. Voigt N, Li N, Wang Q, et al. Enhanced sarcoplasmic reticulum Ca2+ leak and increased Na+-Ca2+ exchanger function underlie delayed afterdepolarizations in patients with chronic atrial fibrillation. Circulation 2012; 125: 2059-70.
89. Rentschler S, Harris BS, Kuznekoff L, et al. Notch signaling regulates murine atrioventricular conduction and the formation of accessory pathways. J Clin Invest 2011; 121: 525-33.
90. Vaquero M, Calvo D, Jalife J. Cardiac fibrillation: from ion channels to rotors in the human heart. Heart Rhythm 2008; 5: 872-79.
91. Narayan SM, Franz MR, Clopton P, Pruvot EJ, Krummen DE. Repolarization alternans reveals vulnerability to human atrial fibrillation. Circulation 2011; 123: 2922-30.
92. Atienza F, Almendral J, Moreno J, et al. Activation of inward rectifier potassium channels accelerates atrial fibrillation in humans: evidence for a reentrant mechanism. Circulation 2006; 114: 2434-42.
93. Jahangir A, Lee V, Friedman PA, et al. Long-term progression and outcomes with aging in patients with lone atrial fibrillation: a 30-year follow-up study. Circulation 2007; 115: 3050-56.
94. Lalani GG, Schricker A, Gibson M, Rostamian A, Krummen DE, Narayan SM. Atrial conduction slows immediately before the onset of human atrial fibrillation: a bi-atrial contact mapping study of transitions to atrial fibrillation. J Am Coll Cardiol 2012; 59: 595-606.
95. Tanaka K, Zlochiver S, Vikstrom KL, et al. Spatial distribution of fibrosis governs fibrillation wave dynamics in the posterior left atrium during heart failure. Circ Res 2007; 101: 839-47.
96. Voigt N, Trausch A, Knaut M, et al. Left-to-right atrial inward rectifier potassium current gradients in patients with paroxysmal versus chronic atrial fibrillation. Circ Arrhythm Electrophysiol 2010; 3: 472-80.
97. Peterson RT, Macrae CA. Systematic approaches to toxicology in the zebrafish. Annu Rev Pharmacol Toxicol 2012; 52: 433-53.
98. Cunha SR, Hund TJ, Hashemi S, et al. Defects in ankyrin-based membrane protein targeting pathways underlie atrial fibrillation. Circulation 2011; 124: 1212-22.
99. He BJ, Joiner ML, Singh MV, et al. Oxidation of CaMKII determines the cardiotoxic effects of aldosterone. Nat Med 2011; 17: 1610-18.
100. van der Werf C, Kannankeril PJ, Sacher F, et al. Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia. J Am Coll Cardiol 2011; 57: 2244-54.