(Circulation. 2001;103:89.)
© 2001 American Heart Association, Inc.
Clinical Investigation and Reports |
Genotype-Phenotype Correlation in the Long-QT Syndrome
Gene-Specific Triggers for Life-Threatening Arrhythmias
From the Department of Cardiology (P.J.S., C.S., R.B.), Policlinico S. Matteo IRCCS and University of Pavia, Pavia, Italy; Molecular Cardiology Laboratories (S.G.P., C.N.), IRCCS Fondazione "S. Maugeri," Pavia, Italy; Department of Medicine (A.J.M., W.Z., J.L.R.), University of Rochester School of Medicine and Dentistry, Rochester, NY; Department of Medicine (M.V., K.W.T.), University of Utah School of Medicine (Salt Lake City); Service de Cardiologie (I.D., P.C.), Hôpital Lariboisière, Paris, France; INSERM U523 (P.G., K.S.), Institut de Myologie, IFR "Coeur Muscle et Vaisseaux" No. 14, Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Medizinische Klinik und Poliklinik (G.B., W.H., E.S.-B.), Innere Medizin C, Kardiologie, and Institute for Arteriosclerosis Research, Westfälische Wilhelms Universität Münster, Münster, Germany; Howard Hughes Medical Institute (M.T.K.), University of Utah, Salt Lake City, Utah; Phoebe Willingham Muzzy Pediatric Molecular Cardiology Laboratory (J.A.T.), Baylor College of Medicine, Texas Children’s Hospital, Houston, Tex; Children’s Hospital (A.H.B., D.W.), Genetic Division, Boston, Mass; Department of Internal Medicine (P.B., V.C., C.C.), University of Stellenbosch and Tygerberg Hospital, Tygerberg, Republic of South Africa; Experimental and Molecular Cardiology Group (A.A.M.W.), Academisch Medisch Centrum Amsterdam, and the Interuniversity Cardiology Institute, the Netherlands; Division of Cardiology (L.T.), Department of Medicine, University of Helsinki, Helsinki, Finland; and Department of Internal Medicine (M.H.L.), University of Michigan School of Medicine (Ann Arbor).
Correspondence to Peter J. Schwartz, MD, Department of Cardiology, Policlinico S Matteo IRCCS, V le Golgi, 19, 27100 Pavia, Italy. E-mail PJQT{at}compuserve.com
Background—The congenital long-QT syndrome (LQTS) is caused by mutations on several genes, all of which encode cardiac ion channels. The progressive understanding of the electrophysiological consequences of these mutations opens unforeseen possibilities for genotype-phenotype correlation studies. Preliminary observations suggested that the conditions ("triggers") associated with cardiac events may in large part be gene specific.
Methods and Results—We identified 670 LQTS patients of known genotype (LQT1, n=371; LQT2, n=234; LQT3, n=65) who had symptoms (syncope, cardiac arrest, sudden death) and examined whether 3 specific triggers (exercise, emotion, and sleep/rest without arousal) differed according to genotype. LQT1 patients experienced the majority of their events (62%) during exercise, and only 3% occurred during rest/sleep. These percentages were almost reversed among LQT2 and LQT3 patients, who were less likely to have events during exercise (13%) and more likely to have events during rest/sleep (29% and 39%). Lethal and nonlethal events followed the same pattern. Corrected QT interval did not differ among LQT1, LQT2, and LQT3 patients (498, 497, and 506 ms, respectively). The percent of patients who were free of recurrence with ß-blocker therapy was higher and the death rate was lower among LQT1 patients (81% and 4%, respectively) than among LQT2 (59% and 4%, respectively) and LQT3 (50% and 17%, respectively) patients.
Conclusions—Life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner. These data allow new insights into the mechanisms that relate the electrophysiological consequences of mutations on specific genes to clinical manifestations and offer the possibility of complementing traditional therapy with gene-specific approaches.
Key Words: death, sudden • genetics • ion channels • long-QT syndrome • nervous system, autonomic
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S. G. Priori and C. Napolitano Molecular Underpinning of "Good Luck" Circulation, August 1, 2006; 114(5): 360 - 362. [Full Text] [PDF]
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 J. M. Karp and A. J. Moss Dental treatment of patients with long QT syndrome J Am Dent Assoc, May 1, 2006; 137(5): 630 - 637. [Abstract] [Full Text] [PDF]
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K. L. Dodge-Kafka, L. Langeberg, and J. D. Scott Compartmentation of Cyclic Nucleotide Signaling in the Heart: The Role of A-Kinase Anchoring Proteins Circ. Res., April 28, 2006; 98(8): 993 - 1001. [Abstract] [Full Text] [PDF]
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A. Anastasakis, C.-M. Kotta, S. Kyriakogonas, B. Wollnik, A. Theopistou, and C. Stefanadis Phenotype reveals genotype in a Greek long QT syndrome family. Europace, April 1, 2006; 8(4): 241 - 244. [Abstract] [Full Text] [PDF]
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H. Vyas, J. Hejlik, and M. J. Ackerman Epinephrine QT Stress Testing in the Evaluation of Congenital Long-QT Syndrome: Diagnostic Accuracy of the Paradoxical QT Response Circulation, March 21, 2006; 113(11): 1385 - 1392. [Abstract] [Full Text] [PDF]
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S. G. Priori and C. Napolitano Role of Genetic Analyses in Cardiology: Part I: Mendelian Diseases: Cardiac Channelopathies Circulation, February 28, 2006; 113(8): 1130 - 1135. [Abstract] [Full Text] [PDF]
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P. J. Schwartz, C. Spazzolini, L. Crotti, J. Bathen, J. P. Amlie, K. Timothy, M. Shkolnikova, C. I. Berul, M. Bitner-Glindzicz, L. Toivonen, et al. The Jervell and Lange-Nielsen Syndrome: Natural History, Molecular Basis, and Clinical Outcome Circulation, February 14, 2006; 113(6): 783 - 790. [Abstract] [Full Text] [PDF]
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 A. A. Fossa, T. Wisialowski, and K. Crimin QT Prolongation Modifies Dynamic Restitution and Hysteresis of the Beat-to-Beat QT-TQ Interval Relationship during Normal Sinus Rhythm under Varying States of Repolarization J. Pharmacol. Exp. Ther., February 1, 2006; 316(2): 498 - 506. [Abstract] [Full Text] [PDF]
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 O. Casis, S.-P. Olesen, and M. C. Sanguinetti Mechanism of Action of a Novel Human ether-a-go-go-Related Gene Channel Activator Mol. Pharmacol., February 1, 2006; 69(2): 658 - 665. [Abstract] [Full Text] [PDF]
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G. Berecki, J. G. Zegers, Z. A. Bhuiyan, A. O. Verkerk, R. Wilders, and A. C. G. van Ginneken Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique J. Physiol., January 15, 2006; 570(2): 237 - 250. [Abstract] [Full Text] [PDF]
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R. Roberts Genomics and Cardiac Arrhythmias J. Am. Coll. Cardiol., January 3, 2006; 47(1): 9 - 21. [Abstract] [Full Text] [PDF]
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M. Viitasalo, L. Oikarinen, H. Swan, K. A. Glatter, H. Vaananen, H. Fodstad, N. Chiamvimonvat, K. Kontula, L. Toivonen, and M. M. Scheinman Ratio of Late to Early T-Wave Peak Amplitude in 24-h Electrocardiographic Recordings as Indicator of Symptom History in Patients With Long-QT Syndrome Types 1 and 2 J. Am. Coll. Cardiol., January 3, 2006; 47(1): 112 - 120. [Abstract] [Full Text] [PDF]
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 C. Napolitano, S. G. Priori, P. J. Schwartz, R. Bloise, E. Ronchetti, J. Nastoli, G. Bottelli, M. Cerrone, and S. Leonardi Genetic Testing in the Long QT Syndrome: Development and Validation of an Efficient Approach to Genotyping in Clinical Practice JAMA, December 21, 2005; 294(23): 2975 - 2980. [Abstract] [Full Text] [PDF]
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E. S. Kaufman Efficient Genotyping for Congenital Long QT Syndrome JAMA, December 21, 2005; 294(23): 3027 - 3028. [Full Text] [PDF]
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M. Viitasalo, L. Oikarinen, H. Swan, K. A. Glatter, H. Vaananen, H. Fodstad, N. Chiamvimonvat, K. Kontula, L. Toivonen, and M. M. Scheinman Ratio of Late to Early T-Wave Peak Amplitude in 24-h Electrocardiographic Recordings as Indicator of Symptom History in Patients With Long-QT Syndrome Types 1 and 2 J. Am. Coll. Cardiol., December 13, 2005; (2005) j.jacc.2005.07.068v1. [Abstract] [Full Text] [PDF]
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T. Jespersen, M. Grunnet, and S.-P. Olesen The KCNQ1 Potassium Channel: From Gene to Physiological Function Physiology, December 1, 2005; 20(6): 408 - 416. [Abstract] [Full Text] [PDF]
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G. S. Ginsburg, M. P. Donahue, and L. K. Newby Prospects for Personalized Cardiovascular Medicine: The Impact of Genomics J. Am. Coll. Cardiol., November 1, 2005; 46(9): 1615 - 1627. [Abstract] [Full Text] [PDF]
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P. A. Brink, L. Crotti, V. Corfield, A. Goosen, G. Durrheim, P. Hedley, M. Heradien, G. Geldenhuys, E. Vanoli, S. Bacchini, et al. Phenotypic Variability and Unusual Clinical Severity of Congenital Long-QT Syndrome in a Founder Population Circulation, October 25, 2005; 112(17): 2602 - 2610. [Abstract] [Full Text] [PDF]
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A. A M Wilde and C. R Bezzina Genetics of cardiac arrhythmias Heart, October 1, 2005; 91(10): 1352 - 1358. [Full Text] [PDF]
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L. Crotti, A. L. Lundquist, R. Insolia, M. Pedrazzini, C. Ferrandi, G. M. De Ferrari, A. Vicentini, P. Yang, D. M. Roden, A. L. George Jr, et al. KCNH2-K897T Is a Genetic Modifier of Latent Congenital Long-QT Syndrome Circulation, August 30, 2005; 112(9): 1251 - 1258. [Abstract] [Full Text] [PDF]
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W. Shimizu The long QT syndrome: Therapeutic implications of a genetic diagnosis Cardiovasc Res, August 15, 2005; 67(3): 347 - 356. [Abstract] [Full Text] [PDF]
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D. J. Tester and M. J. Ackerman Sudden infant death syndrome: How significant are the cardiac channelopathies? Cardiovasc Res, August 15, 2005; 67(3): 388 - 396. [Abstract] [Full Text] [PDF]
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