Targeting Device Therapy: Genomics of Sudden Death

Heart Failure Clinics

Volumn 6, Issue 1, 2010, Pages 93-100

  Frangiskakis, J Michael ^a   London, Barry ^a  

^a UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

Author keywords

Arrhythmias; Genomics; Heart failure; Implantable cardioverter defibrillators; Sudden cardiac death

Indexed keywords

ION CHANNEL;

BRUGADA SYNDROME; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; DEFIBRILLATOR; GENETIC POLYMORPHISM; GENOMICS; HEART ARRHYTHMIA; HEART INFARCTION; LONG QT SYNDROME; MUTATION; REVIEW; SHORT QT SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; SUDDEN DEATH;

ANIMALS; ARRHYTHMIAS, CARDIAC; DEATH, SUDDEN, CARDIAC; DEFIBRILLATORS, IMPLANTABLE; GENETIC VARIATION; GENOMICS; HEART FAILURE; HUMANS; ION CHANNELS; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK ASSESSMENT;

EID: 70450237161     PISSN: 15517136     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hfc.2009.08.005     Document Type: Review

References (74)

1. Josephson M., and Wellens H.J. Implantable defibrillators and sudden cardiac death. Circulation 109 22 (2004) 2685-2691
2. Smith T.W., and Cain M.E. Sudden cardiac death: epidemiologic and financial worldwide perspective. J Interv Card Electrophysiol 17 3 (2006) 199-203
3. Prystowsky E.N. Prevention of sudden cardiac death. Clin Cardiol 28 Suppl 11 (2005) I12-I18
4. Priori S.G., and Napolitano C. Genetics of cardiac arrhythmias and sudden cardiac death. Ann N Y Acad Sci 1015 (2004) 96-110
5. Huikuri H.V., Castellanos A., and Myerburg R.J. Sudden death due to cardiac arrhythmias. N Engl J Med 345 20 (2001) 1473-1482
6. Preliminary report: effect of encainide and flecainide on mortality in a randomized trial of arrhythmia suppression after myocardial infarction. The Cardiac Arrhythmia Suppression Trial (CAST) Investigators. N Engl J Med 321 6 (1989) 406-412
7. Tung R., Zimetbaum P., and Josephson M.E. A critical appraisal of implantable cardioverter-defibrillator therapy for the prevention of sudden cardiac death. J Am Coll Cardiol 52 14 (2008) 1111-1121
8. Spooner P.M. Sudden cardiac death: the larger problem. The larger genome. J Cardiovasc Electrophysiol 20 5 (2009) 585-596
9. Beuckelmann D.J., Nabauer M., and Erdmann E. Alterations of K+ currents in isolated human ventricular myocytes from patients with terminal heart failure. Circ Res 73 2 (1993) 379-385
10. Kaab S., Nuss H.B., Chiamvimonvat N., et al. Ionic mechanism of action potential prolongation in ventricular myocytes from dogs with pacing-induced heart failure. Circ Res 78 2 (1996) 262-273
11. Nabauer M., Beuckelmann D.J., and Erdmann E. Characteristics of transient outward current in human ventricular myocytes from patients with terminal heart failure. Circ Res 73 2 (1993) 386-394
12. Vermeulen J.T., McGuire M.A., Opthof T., et al. Triggered activity and automaticity in ventricular trabeculae of failing human and rabbit hearts. Cardiovasc Res 28 10 (1994) 1547-1554
13. Baker L.C., London B., Choi B.R., et al. Enhanced dispersion of repolarization and refractoriness in transgenic mouse hearts promotes reentrant ventricular tachycardia. Circ Res 86 4 (2000) 396-407
14. El-Sherif N., Chinushi M., Caref E.B., et al. Electrophysiological mechanism of the characteristic electrocardiographic morphology of torsade de pointes tachyarrhythmias in the long-QT syndrome: detailed analysis of ventricular tridimensional activation patterns. Circulation 96 12 (1997) 4392-4399
15. Frazier D.W., Wolf P.D., Wharton J.M., et al. Stimulus-induced critical point. Mechanism for electrical initiation of reentry in normal canine myocardium. J Clin Invest 83 3 (1989) 1039-1052
16. Cabo C., and Boyden P.A. Heterogeneous gap junction remodeling stabilizes reentrant circuits in the epicardial border zone of the healing canine infarct: a computational study. Am J Physiol Heart Circ Physiol 291 6 (2006) H2606-H2616
17. Brahmajothi M.V., Morales M.J., Reimer K.A., et al. Regional localization of ERG, the channel protein responsible for the rapid component of the delayed rectifier, K+ current in the ferret heart. Circ Res 81 1 (1997) 128-135
18. London B., Baker L.C., Lee J.S., et al. Calcium-dependent arrhythmias in transgenic mice with heart failure. Am J Physiol Heart Circ Physiol 284 2 (2003) H431-H441
19. Petkova-Kirova P.S., Gursoy E., Mehdi H., et al. Electrical remodeling of cardiac myocytes from mice with heart failure due to the overexpression of tumor necrosis factor-alpha. Am J Physiol Heart Circ Physiol 290 5 (2006) H2098-H2107
20. Bers D.M., Despa S., and Bossuyt J. Regulation of Ca2+ and Na+ in normal and failing cardiac myocytes. Ann N Y Acad Sci 1080 (2006) 165-177
21. Beuckelmann D.J., Nabauer M., and Erdmann E. Intracellular calcium handling in isolated ventricular myocytes from patients with terminal heart failure. Circulation 85 3 (1992) 1046-1055
22. O'Rourke B., Kass D.A., Tomaselli G.F., et al. Mechanisms of altered excitation-contraction coupling in canine tachycardia-induced heart failure, I: experimental studies. Circ Res 84 5 (1999) 562-570
23. Pu J., Robinson R.B., and Boyden P.A. Abnormalities in Ca(i)handling in myocytes that survive in the infarcted heart are not just due to alterations in repolarization. J Mol Cell Cardiol 32 8 (2000) 1509-1523
24. Bristow M.R., Hershberger R.E., Port J.D., et al. Beta-adrenergic pathways in nonfailing and failing human ventricular myocardium. Circulation 82 Suppl 2 (1990) I12-I25
25. Anderson M.E. Multiple downstream proarrhythmic targets for calmodulin kinase II: moving beyond an ion channel-centric focus. Cardiovasc Res 73 4 (2007) 657-666
26. Houser S.R. When does spontaneous sarcoplasmic reticulum CA(2+) release cause a triggered arrythmia? Cellular versus tissue requirements. Circ Res 87 9 (2000) 725-727
27. Schaffer W.A., and Cobb L.A. Recurrent ventricular fibrillation and modes of death in survivors of out-of-hospital ventricular fibrillation. N Engl J Med 293 6 (1975) 259-262
28. Ritchie J.L., Hamilton G.W., Trobaugh G.B., et al. Myocardial imaging and radionuclide angiography in survivors of sudden cardiac death due to ventricular fibrillation: preliminary report. Am J Cardiol 39 6 (1977) 852-857
29. Campbell N.P., Webb S.W., Adgey A.A., et al. Transthoracic ventricular defibrillation in adults. Br Med J 2 6099 (1977) 1379-1381
30. Adgey A.A., Campbell N.P., Webb S.W., et al. Transthoracic ventricular defibrillation in the adult. Med Instrum 12 1 (1978) 17-19
31. Olshansky B., Wood F., Hellkamp A.S., et al. Where patients with mild to moderate heart failure die: results from the Sudden Cardiac Death in Heart Failure Trial (SCD-HeFT). Am Heart J 153 6 (2007) 1089-1094
32. Filippi A., Sessa Jr. E., Mazzaglia G., et al. Out of hospital sudden cardiac death in Italy: a population-based case-control study. J Cardiovasc Med (Hagerstown) 9 6 (2008) 595-600
33. Mirowski M., Mower M.M., and Reid P.R. The automatic implantable defibrillator. Am Heart J 100 6 Pt 2 (1980) 1089-1092
34. A comparison of antiarrhythmic-drug therapy with implantable defibrillators in patients resuscitated from near-fatal ventricular arrhythmias. The Antiarrhythmics versus Implantable Defibrillators (AVID) Investigators. N Engl J Med 337 22 (1997) 1576-1583
35. Bardy G.H., Lee K.L., Mark D.B., et al. Amiodarone or an implantable cardioverter-defibrillator for congestive heart failure. N Engl J Med 352 3 (2005) 225-237
36. Moss A.J., Hall W.J., Cannom D.S., et al. Improved survival with an implanted defibrillator in patients with coronary disease at high risk for ventricular arrhythmia. Multicenter Automatic Defibrillator Implantation Trial Investigators. N Engl J Med 335 26 (1996) 1933-1940
37. Moss A.J., Zareba W., Hall W.J., et al. Prophylactic implantation of a defibrillator in patients with myocardial infarction and reduced ejection fraction. N Engl J Med 346 12 (2002) 877-883
38. Sweeney M.O., Hellkamp A.S., Ellenbogen K.A., et al. Reduced ejection fraction, sudden cardiac death, and heart failure death in the mode selection trial (MOST): implications for device selection in elderly patients with sinus node disease. J Cardiovasc Electrophysiol 19 11 (2008) 1160-1166
39. Mozaffarian D., Anker S.D., Anand I., et al. Prediction of mode of death in heart failure: the Seattle Heart Failure Model. Circulation 116 4 (2007) 392-398
40. Jessup M., Abraham W.T., Casey D.E., et al. Focused update: ACCF/AHA Guidelines for the Diagnosis and Management of Heart Failure in Adults. A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation 119 (2009) 1977-2016
41. Nessler J., Nessler B., Kitlinski M., et al. Sudden cardiac death risk factors in patients with heart failure treated with carvedilol. Kardiol Pol 65 12 (2007) 1417-1422 [discussion: 1423-14]
42. Anand K., Mooss A.N., and Mohiuddin S.M. Aldosterone inhibition reduces the risk of sudden cardiac death in patients with heart failure. J Renin Angiotensin Aldosterone Syst 7 1 (2006) 15-19
43. Singh S.N., Fletcher R.D., Fisher S.G., et al. Amiodarone in patients with congestive heart failure and asymptomatic ventricular arrhythmia. Survival Trial of Antiarrhythmic Therapy in Congestive Heart Failure. N Engl J Med 333 2 (1995) 77-82
44. Epstein A.E., DiMarco J.P., Ellenbogen K.A., et al. ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices) developed in collaboration with the American Association for Thoracic Surgery and Society of Thoracic Surgeons. J Am Coll Cardiol 51 21 (2008) e1-62
45. Rosenbaum D.S. T-wave alternans in the sudden cardiac death in heart failure trial population: signal or noise?. Circulation 118 20 (2008) 2015-2018
46. Friedlander Y., Siscovick D.S., Weinmann S., et al. Family history as a risk factor for primary cardiac arrest. Circulation 97 2 (1998) 155-160
47. Jouven X., Desnos M., Guerot C., et al. Predicting sudden death in the population: the Paris Prospective Study I. Circulation 99 15 (1999) 1978-1983
48. Kaikkonen K.S., Kortelainen M.L., Linna E., et al. Family history and the risk of sudden cardiac death as a manifestation of an acute coronary event. Circulation 114 14 (2006) 1462-1467
49. Dekker L.R., Bezzina C.R., Henriques J.P., et al. Familial sudden death is an important risk factor for primary ventricular fibrillation: a case-control study in acute myocardial infarction patients. Circulation 114 11 (2006) 1140-1145
50. Katz G., Arad M., and Eldar M. Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond. Curr Probl Cardiol 34 1 (2009) 9-43
51. Zareba W., and Cygankiewicz I. Long QT syndrome and short QT syndrome. Prog Cardiovasc Dis 51 3 (2008) 264-278
52. Schulze-Bahr E. Susceptibility genes & modifiers for cardiac arrhythmias. Prog Biophys Mol Biol 98 2-3 (2008) 289-300
53. Stecker E.C., Sono M., Wallace E., et al. Allelic variants of SCN5A and risk of sudden cardiac arrest in patients with coronary artery disease. Heart Rhythm 3 6 (2006) 697-700
54. Doolan A., Langlois N., Chiu C., et al. Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians. Int J Cardiol 127 1 (2008) 138-141
55. Albert C.M., Nam E.G., Rimm E.B., et al. Cardiac sodium channel gene variants and sudden cardiac death in women. Circulation 117 1 (2008) 16-23
56. Splawski I., Timothy K.W., Tateyama M., et al. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 297 5585 (2002) 1333-1336
57. Burke A., Creighton W., Mont E., et al. Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks. Circulation 112 6 (2005) 798-802
58. Plant L.D., Bowers P.N., Liu Q., et al. A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest 116 2 (2006) 430-435
59. Viswanathan P.C., Benson D.W., and Balser J.R. A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest 111 3 (2003) 341-346
60. Makielski J.C., Ye B., Valdivia C.R., et al. A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ Res 93 9 (2003) 821-828
61. Poelzing S., Forleo C., Samodell M., et al. SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation 114 5 (2006) 368-376
62. Dorn G.W., and Liggett S.B. Mechanisms of Pharmacogenomic Effects of Genetic Variation of the Cardiac Adrenergic Network in Heart Failure. Mol Pharmacol 76 (2009) 466-480
63. McNamara D.M., MacGowan G.A., and London B. Clinical importance of beta-adrenoceptor polymorphisms in cardiovascular disease. Am J Pharmacogenomics 2 2 (2002) 73-78
64. Sotoodehnia N., Siscovick D.S., Vatta M., et al. Beta2-adrenergic receptor genetic variants and risk of sudden cardiac death. Circulation 113 15 (2006) 1842-1848
65. Refaat M., Frangiskakis J.M., Grimley S., et al. The β2-adrenergic receptor Gln27 polymorphism is associated with increased ventricular arrhythmias in patients with severe heart failure. Heart Rhythm 6 (2009) S456
66. Arking D.E., Pfeufer A., Post W., et al. A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet 38 6 (2006) 644-651
67. Aarnoudse A.J., Newton-Cheh C., de Bakker P.I., et al. Common NOS1AP variants are associated with a prolonged QTc interval in the Rotterdam Study. Circulation 116 1 (2007) 10-16
68. Kao W.H., Arking D.E., 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 119 7 (2009) 940-951
69. Hernesniemi J.A., Karhunen P.J., Rontu R., et al. Interleukin-18 promoter polymorphism associates with the occurrence of sudden cardiac death among Caucasian males: the Helsinki Sudden Death Study. Atherosclerosis 196 2 (2008) 643-649
70. London B., Albert C., Anderson M.E., et al. Omega-3 fatty acids and cardiac arrhythmias: prior studies and recommendations for future research: a report from the National Heart, Lung, and Blood Institute and Office Of Dietary Supplements Omega-3 Fatty Acids and their Role in Cardiac Arrhythmogenesis Workshop. Circulation 116 10 (2007) e320-e335
71. Ellenbogen K.A., Levine J.H., Berger R.D., et al. Are implantable cardioverter defibrillator shocks a surrogate for sudden cardiac death in patients with nonischemic cardiomyopathy?. Circulation 113 6 (2006) 776-782
72. Ruan Y., Liu N., and Priori S.G. Sodium channel mutations and arrhythmias. Nat Rev Cardiol 6 5 (2009) 337-348
73. Kaab S., and Schulze-Bahr E. Susceptibility genes and modifiers for cardiac arrhythmias. Cardiovasc Res 67 3 (2005) 397-413
74. Small K.M., Wagoner L.E., Levin A.M., et al. Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and the risk of congestive heart failure. N Engl J Med 347 15 (2002) 1135-1142