Proarrhythmia as a pharmacogenomic entity: A critical review and formulation of a unifying hypothesis

Cardiovascular Research

Volumn 67, Issue 3, 2005, Pages 419-425

  Roden, Dan M ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Drugs; Ion channels; Pharmacogenetics; Proarrhythmia

Indexed keywords

AMIODARONE; ANTIDEPRESSANT AGENT; ANTIFUNGAL AGENT; ANTIMALARIAL AGENT; CYCLOSPORIN; DIGOXIN; ERYTHROMYCIN; FEXOFENADINE; FLECAINIDE; ISONIAZID; ITRACONAZOLE; KETOCONAZOLE; MACROLIDE; MOXIFLOXACIN; PROCAINAMIDE; PROPAFENONE; QUINIDINE; SODIUM CHANNEL BLOCKING AGENT; SUXAMETHONIUM; TERFENADINE; TRICYCLIC ANTIDEPRESSANT AGENT; VERAPAMIL;

ARRHYTHMOGENESIS; BRADYCARDIA; DRUG EFFECT; DRUG ELIMINATION; DRUG MECHANISM; DRUG METABOLISM; DRUG RESPONSE; GENE FUNCTION; GENE INTERACTION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEART PROARRHYTHMIA; HEART REPOLARIZATION; HEART VENTRICLE FIBRILLATION; HEMOLYSIS; HEREDITY; HUMAN; HYPOTHESIS; LUPUS VULGARIS; PARALYSIS; PHARMACOGENETICS; PHARMACOGENOMICS; PHENOTYPE; PRIORITY JOURNAL; QT PROLONGATION; REVIEW; SYNDROME; TORSADE DES POINTES; TOXICITY;

ANTI-ARRHYTHMIA AGENTS; ARRHYTHMIA; DOSE-RESPONSE RELATIONSHIP, DRUG; HEART CONDUCTION SYSTEM; HUMANS; PHARMACOGENETICS; SODIUM CHANNEL BLOCKERS; TORSADES DE POINTES;

EID: 22544457526     PISSN: 00086363     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cardiores.2005.04.022     Document Type: Review

References (57)

1. W. Kalow Pharmacogenetics-heredity and responses to drugs 1962 W.B. Saunders Philadelphia
2. E. Beutler, R.J. Dern, and A.S. Alving The hemolytic effect of primaquine: VI. An in vitro test for sensitivity of erythrocytes to primaquine J Lab Clin Med 45 1955 40 50
3. D.A. Price-Evans, F.A. Manley, and V.A. McKusick Genetic control of isoniazid metabolism in man Br Med J 2 1960 485 491
4. R.L. Woosley, D.E. Drayer, M.M. Reidenberg, A.S. Nies, K. Carr, and J.A. Oates Effect of acetylator phenotype on the rate at which procainamide induces antinuclear antibodies and the lupus syndrome N Engl J Med 298 1978 1157 1159
5. A. Forbat, M.B. Lond, H. Lehmann, and E. Silk Prolonged apnea following injection of succinylcholine Lancet 2 1953 1067 1068
6. M. Whittaker Genetic aspects of succinylcholine sensitivity Anesthesiology 32 1970 143 150
7. S.P. Ball, and K.J. Johnson The genetics of malignant hyperthermia J Med Genet 30 1993 89 93
8. D.M. Roden, and A.L. George Jr. The genetic basis of variability in drug responses Nat Rev Drug Discov 1 2002 37 44
9. R. Weinshilboum, and L. Wang Pharmacogenomics: bench to bedside Nat Rev Drug Discov 3 2004 739 748
10. R.A. Salerno, and L.J. Lesko Pharmacogenomic data: FDA voluntary and required submission guidance Pharmacogenomics 5 2004 503 505
11. P.W. Norbert, and A.D. Roses Pharmacogenetics and pharmacogenomics: recent developments, their clinical relevance and some ethical, social, and legal implications J Mol Med 81 2003 135 140
12. L.A. Siddoway, K.A.M.K.T. Thompson, C.B. McAllister, T. Wang, G.R. Wilkinson, and D.M. Roden Polymorphism of propafenone metabolism and disposition in man: clinical and pharmacokinetic consequences Circulation 75 1987 785 791
13. J.T. Lee, H.K. Kroemer, D.J. Silberstein, C. Funck-Brentano, M.D. Lineberry, and A.J. Wood The role of genetically determined polymorphic drug metabolism in the beta-blockade produced by propafenone N Engl J Med 322 1990 1764 1768
14. U.A. Meyer, and U.M. Zanger Molecular mechanisms of genetic polymorphisms of drug metabolism Annu Rev Pharmacol Toxicol 37 1997 269 296
15. R.L. Woosley, Y. Chen, J.P. Freiman, and R.A. Gillis Mechanism of the cardiotoxic actions of terfenadine JAMA 269 1993 1532 1536
16. P. Kuehl, J. Zhang, Y. Lin, J. Lamba, M. Assem, and J. Schuetz Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression Nat Genet 27 2001 383 391
17. G.R. Wilkinson Genetic variability in cytochrome P450 3A5 and in vivo cytochrome P450 3A activity: some answers but still questions Clin Pharmacol Ther 76 2004 99 103
18. M.F. Fromm, R.B. Kim, C.M. Stein, G.R Wilkinson, and DM. Roden Inhibition of P-glycoprotein-mediated drug transport: a unifying mechanism to explain the interaction between digoxin and quinidine Circulation 99 1999 552 557
19. S. Hoffmeyer, O. Burk, O. von Richter, H.P. Arnold, J. Brockmoller, and A. Johne Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo PNAS 97 2000 3473 3478
20. R.B. Kim, B.F. Leake, E.F. Choo, G.K. Dresser, S.V. Kubba, and U.I. Schwarz Identification of functionally variant MDR1 alleles among European Americans and African Americans Clin Pharmacol Ther 70 2001 189 199
21. J. Evers, M. Eichelbaum, and H.K. Kroemer Unpredictability of flecainide plasma concentrations in patients with renal failure: relation to side effects and sudden death? Ther Drug Monit 16 1994 349 351
22. D.M. Roden Drug-induced prolongation of the QT Interval N Engl J Med 350 2004 1013 1022
23. Kr: implications for torsades de pointes and reverse use-dependence Circulation 93 1996 407 411
24. L. Belardinelli, C. Antzelevitch, and M.A. Vos Assessing predictors of drug-induced torsade de pointes Trends Pharmacol Sci 24 2003 619 625
25. D.M. Roden Taking the idio out of idiosyncratic-predicting torsades de pointes PACE 21 1998 1029 1034
26. A.V. Postma, I. Denjoy, T.M. Hoorntje, J.M. Lupoglazoff, A. Da Costa, and P. Sebillon Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia Circ Res 91 2002 E21 E26
27. S.G. Priori, C. Napolitano, M. Memmi, B. Colombi, F. Drago, and M. Gasparini Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia Circulation 106 2002 69 74
28. P.J. Mohler, J.J. Schott, A.O. Gramolini, K.W. Dilly, S. Guatimosim, and W.H. duBell Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death Nature 421 2003 634 639
29. C. Von Bahr, G. Movin, C. Nordin, A. Liden, M. Hammarlund-Udenaes, and A. Hedberg Plasma levels of thioridazine and metabolites are influenced by the debrisoquin hydroxylation phenotype Clin Pharmacol Ther 49 1991 234 240
30. B. Drolet, F. Vincent, J. Rail, M. Chahine, D. Deschenes, and S. Nadeau Thioridazine lengthens repolarization of cardiac ventricular myocytes by blocking the delayed rectifier potassium current J Pharmacol Exp Ther 288 1999 1261 1268
31. L. Carlsson, C. Abrahamsson, B. Andersson, G. Duker, and G. Schiller-Linhardt Proarrhythmic effects of the class III agent almokalant: importance of infusion rate. QT dispersion, and early afterdepolarisations Cardiovasc Res 27 1993 2186 2193
32. K.A. Ellenbogen, M.A. Wood, and B.S. Stambler Intravenous therapy for atrial fibrillation: more choices, more questions, more trials Am Heart J 137 1999 992 995
33. B. Houltz, B. Darpo, N. Edvardsson, P. Blomstrom, J. Brachmann, and H.J.G.M. Crijns Electrocardiographic and clinical predictors of torsades de pointes induced by almokalant infusion in patients with chronic atrial fibrillation or flutter. A prospective study PACE 21 1998 1044 1057
34. A.M.J. Choy, D. Darbar, S. Dell'Orto, and D.M. Roden Increased sensitivity to QT prolonging drug therapy immediately after cardioversion to sinus rhythm J Am Coll Cardiol 34 1999 396 401
35. + current in cardiac cells Circ Res 80 1997 782 789
36. H. Numaguchi, J.P. Johnson Jr., C.I. Petersen, and J.R. Balser A sensitive mechanism for cation modulation of potassium current Nat Neurosci 3 2000 429 430
37. C. Donger, I. Denjoy, M. Berthet, N. Neyroud, C. Cruaud, and M. Bennaceur KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome Circulation 96 1997 2778 2781
38. C. Napolitano, S.G. Priori, P.J. Schwartz, F. Cantu, V. Paganini, and P.S. Matteo Identification of a long QT syndrome molecular defect in drug-induced torsades de pointes Circulation 96 1997 I-211
39. P. Yang, H. Kanki, B. Drolet, T. Yang, J. Wei, and P.C. Viswanathan Allelic variants in long QT disease genes in patients with drug-associated torsades de pointes Circulation 105 2002 1943 1948
40. A.D. Paulussen, R.A. Gilissen, M. Armstrong, P.A. Doevendans, P. Verhasselt, and H.J. Smeets Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients J Mol Med 82 2004 182 188
41. P.J. Schwartz, S.G. Priori, and C. Napolitano How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome J Cardiovasc Electrophysiol 14 2003 1120 1121
42. I. Splawski, K.W. Timothy, M. Tateyama, C.E. Clancy, A. Malhotra, and A.H. Beggs Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia Science 297 2002 1333 1336
43. S. Chen, M.K. Chung, D. Martin, R. Rozich, P.J. Tchou, and Q. Wang SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family J Med Genet 39 2002 913 915
44. J.P. Ioannidis, E.E. Ntzani, T.A. Trikalinos, and D.G. Contopoulos-Ioannidis Replication validity of genetic association studies Nat Genet 29 2001 306 309
45. J.N. Hirschhorn, K. Lohmueller, E. Byrne, and K. Hirschhorn A comprehensive review of genetic association studies Genet Med 4 2002 45 61
46. J. Wei, I.C. Yang, A.R. Tapper, K.T. Murray, P. Viswanathan, and Y. Rudy KCNE1 polymorphism confers risk of drug-induced long QT syndrome by altering kinetic properties of IKs potassium channels Circulation 100 1999 I-495
47. F. Sesti, G.W. Abbott, J. Wei, K.T. Murray, S. Saksena, and P.J. Schwartz A common polymorphism associated with antibiotic-induced cardiac arrhythmia PNAS 97 2000 10613 10618
48. Kr potassium channels with HERG and is associated with cardiac arrhythmia Cell 97 1999 175 187
49. D. Zeltser, D. Justo, A. Halkin, V. Prokhorov, K. Heller, and S. Viskin Torsade de pointes due to noncardiac drugs: most patients have easily identifiable risk factors Medicine (Baltimore) 82 2003 282 290
50. R. Brugada, J. Brugada, C. Antzelevitch, G.E. Kirsch, D. Potenza, and J.A. Towbin Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts Circulation 101 2000 510 515
51. J.C. Makielski, B. Ye, C.R. Valdivia, M.D. Pagel, J. Pu, and D.J. Tester A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels Circ Res 93 2003 821 828
52. W.A. Groenewegen, M. Firouzi, C.R. Bezzina, S. Vliex, I.M. van Langen, and L. Sandkuijl A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill Circ Res 92 2003 14 22
53. P. Yang, S. Kupershmidt, and D.M. Roden Cloning and initial characterization of the human cardiac sodium channel (SCN5A) promoter Cardiovasc Res 61 2004 56 65
54. P. Yang, T.T. Koopmann, A. Pfeufer, S. Kaab, A.A. Wilde, and D.M. Roden DNA polymorphisms with variant in vitro function are common in the cardiac sodium channel promoter Circulation 2004
55. E.L. Carey Jr., H.J. Duff, D.M. Roden, R.K. Primm, G.R. Wilkinson, and T. Wang Encainide and its metabolites. Comparative effects in man on ventricular arrhythmia and electrocardiographic intervals J Clin Invest 73 1984 539 547
56. W.J. Oetgen, P.A. Tibbits, M.E.O. Abt, and R.E. Goldstein Clinical and electrophysiologic assessment of oral flecainide acetate for recurrent ventricular tachycardia: evidence for exacerbation of electrical instability Am J Cardiol 52 1983 746 750
57. R.A. Winkle, J.W. Mason, J.C. Griffin, and D. Ross Malignant ventricular tachy-arrhythmias associated with the use of encainide Am Heart J 102 1981 857 864