Drug-induced long QT syndrome and exome sequencing: Chinese shadows link past and future

Journal of the American College of Cardiology

Volumn 63, Issue 14, 2014, Pages 1438-1440

  Crotti, Lia ^a,b,c   Schwartz, Peter J ^b  

^a UNIVERSITY OF PAVIA   (Italy)

^b ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

adverse drug event; exome; genetics; long QT interval syndrome; torsades des pointes

Indexed keywords

CISAPRIDE; POTASSIUM CHANNEL KCNE1; QUINIDINE;

ACN9 GENE; DRUG INDUCED DISEASE; EXOME; FAINTNESS; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; HEART ARRHYTHMIA; HEART ATRIUM FIBRILLATION; HEART REPOLARIZATION; HEART VENTRICLE FIBRILLATION; HEART VENTRICLE TACHYCARDIA; HUMAN; KCNE1 GENE; LONG QT SYNDROME; NOTE; PRIORITY JOURNAL; QT INTERVAL; QT PROLONGATION; CCT7 GENE; GENETIC RISK; GUCY1A3 GENE; SEQUENCE ANALYSIS;

ADVERSE DRUG EVENT; EXOME; GENETICS; LONG QT INTERVAL SYNDROME; TORSADES DES POINTES;

DRUG-RELATED SIDE EFFECTS AND ADVERSE REACTIONS; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LONG QT SYNDROME; MALE; TORSADES DE POINTES;

EID: 84897999034     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2014.01.030     Document Type: Editorial

References (33)

1. D.M. Roden Drug-induced prolongation of the QT interval N Engl J Med 350 2004 1013 1022
2. B.P. Monahan, C.L. Ferguson, E.S. Killeavy, B.K. Lloyd, J. Troy, and L.R. Cantilena Jr. Torsades de pointes occurring in association with terfenadine use JAMA 264 1990 2788 2790
3. W.J. Crumb Jr., B. Wible, D.J. Arnold, J.P. Payne, and A.M. Brown Blockade of multiple human cardiac potassium currents by the antihistamine terfenadine: possible mechanism for terfenadine-associated cardiotoxicity Mol Pharmacol 47 1995 181 190
4. M.R. Rosen Of oocytes and runny noses Circulation 94 1996 607 609
5. A.E. Clark-Kennedy Quinidine in the treatment of auricular fibrillation Q J Med 16 1923 204 235
6. A. Selzer, and H.W. Wray Quinidine syncope. paroxysmal ventricular fibrillation occurring during treatment of chronic atrial arrhythmias Circulation 30 1964 17 26
7. E.W. Reynolds, and C.R. Vander Ark Quinidine syncope and the delayed repolarization syndromes Mod Concepts Cardiovasc Dis 45 1976 117 122
8. C.K. Friedberg Diseases of the Heart 3rd edition 1966 WB Saunders Philadelphia, PA
9. P.J. Schwartz, and A.J. Moss QT interval prolongation. What does it mean? J Cardiovasc Med 7 1982 1317 1330
10. P.J. Schwartz, M.J. Ackerman, A.L. George Jr., and A.M. Wilde Impact of genetics on the clinical management of channelopathies J Am Coll Cardiol 62 2013 169 180
11. C. Napolitano, P.J. Schwartz, and A.M. Brown et al. Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias J Cardiovasc Electrophysiol 11 2000 691 696
12. D.M. Roden Taking the "idio" out of "idiosyncratic": predicting torsades de pointes Pacing Clin Electrophysiol 21 1998 1029 1034
13. L. Xiao, J. Xiao, X. Luo, H. Lin, Z. Wang, and S. Nattel Feedback remodeling of cardiac potassium current expression: a novel potential mechanism for control of repolarization reserve Circulation 118 2008 983 992
14. P. Yang, H. Kanki, and B. Drolet et al. Allelic variants in long QT disease genes in patients with drug-associated torsades de pointes Circulation 105 2002 1943 1948
15. Y. Jamshidi, I.M. Nolte, and C. Dalageorgou et al. Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia J Am Coll Cardiol 60 2012 841 850
16. S. Kääb, D.C. Crawford, and M.F. Sinner 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 5 2012 91 99
17. H. Itoh, T. Sakaguchi, and W.G. Ding et al. Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome Circ Arrhythm Electrophysiol 2 2009 511 523
18. Y. Nishio, T. Makiyama, and H. Itoh et al. D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome J Am Coll Cardiol 54 2009 812 819
19. P. Weeke, J.D. Mosley, and D. Hanna et al. Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome J Am Coll Cardiol 63 2014 1430 1437
20. S.B. Ng, E.H. Turner, and P.D. Robertson et al. Targeted capture and massively parallel sequencing of 12 human exomes Nature 461 2009 272 276
21. S.B. Ng, K.J. Buckingham, and C. Lee et al. Exome sequencing identifies the cause of a mendelian disorder Nat Genet 42 2010 30 35
22. B. Rabbani, N. Mahdieh, K. Hosomichi, H. Nakaoka, and I. Inoue Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders J Hum Genet 57 2012 621 632
23. J.L. Theis, K.M. Sharpe, and M.E. Matsumoto et al. Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy Circ Cardiovasc Genet 4 2011 585 594
24. J. Erdmann, K. Stark, and U.B. Esslinger et al. Dysfunctional nitric oxide signaling increases risk of myocardial infarction Nature 504 2013 432 436
25. L. Crotti, C.N. Johnson, and E. Graf et al. Calmodulin mutations associated with recurrent cardiac arrest in infants Circulation 127 2013 1009 1017
26. S. Zaidi, M. Choi, and H. Wakimoto et al. De novo mutations in histone-modifying genes in congenital heart disease Nature 498 2013 220 223
27. S.B. Ng, A.W. Bigham, and K.J. Buckingham et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome Nat Genet 42 2010 790 793
28. Y. Jiao, T.M. Pawlik, and R.A. Anders et al. Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas Nat Genet 45 2013 1470 1473
29. M.J. Emond, T. Louie, and J. Emerson et al. Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis Nat Genet 44 2012 886 889
30. N.J. Schork, S.S. Murray, K.A. Frazer, and E.J. Topol Common vs. rare allele hypotheses for complex diseases Curr Opin Genet Dev 19 2009 212 219
31. E.R. Behr, M.D. Ritchie, and T. Tanaka et al. Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes PLoS One 8 2013 e78511
32. V. Plagnol, J. Curtis, and M. Epstein et al. A robust model for read count data in exome sequencing experiments and implications for copy number variant calling Bioinformatics 28 2012 2747 2754
33. F.S. Collins, and M.A. Hamburg First FDA authorization for next-generation sequencer N Engl J Med 369 2013 2369 2371