Influence of the genotype on the clinical course of the long-QT syndrome

Wojciech Zareba; Arthur J. Moss; Peter J. Schwartz; G. Michael Vincent; Jennifer L. Robinson; Silvia G. Priori; Jesaia Benhorin; Emanuela H. Locati; Jeffrey A. Towbin; Mark T. Keating; Michael H. Lehmann; W. Jackson Hall; Mark L. Andrews; Carlo Napolitano; Katherine Timothy; Li Zhang; Aharon Medina; Jean W. MacCluer

doi:10.1056/NEJM199810013391404

Influence of the genotype on the clinical course of the long-QT syndrome

Wojciech Zareba, Arthur J. Moss, Peter J. Schwartz, G. Michael Vincent, Jennifer L. Robinson, Silvia G. Priori, Jesaia Benhorin, Emanuela H. Locati, Jeffrey A. Towbin, Mark T. Keating, Michael H. Lehmann, W. Jackson Hall, Mark L. Andrews, Carlo Napolitano, Katherine Timothy, Li Zhang, Aharon Medina, Jean W. MacCluer

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Abstract

Background. The congenital long-QT syndrome, caused by mutations in cardiac potassium-channel genes (KVLQT1 at the LQT1 locus and HERG at the LQT2 locus) and the sodium-channel gene (SCN5A at the LQT3 locus), has distinct repolarization patterns on electrocardiography, but it is not known whether the genotype influences the clinical course of the disease. Methods. We determined the genotypes of 541 of 1378 members of 38 families enrolled in the International Long-QT Syndrome Registry: 112 had mutations at the LQT1 locus, 72 had mutations at the LQT2 locus, and 62 had mutations at the LQT3 locus. We determined the cumulative probability and lethality of cardiac events (syncope, aborted cardiac arrest, or sudden death) occurring from birth through the age of 40 years according to genotype in the 246 gene carriers and in all 1378 members of the families studied. Results. The frequency of cardiac events was higher among subjects with mutations at the LQT1 locus (63 percent) or the LQT2 locus (46 percent) than among subjects with mutations at the LQT3 locus (18 percent) (P

Original language	English
Pages (from-to)	960-965
Number of pages	6
Journal	New England Journal of Medicine
Volume	339
Issue number	14
DOIs	https://doi.org/10.1056/NEJM199810013391404
Publication status	Published - Oct 1 1998

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Medicine(all)

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10.1056/NEJM199810013391404

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Zareba, W., Moss, A. J., Schwartz, P. J., Vincent, G. M., Robinson, J. L., Priori, S. G., Benhorin, J., Locati, E. H., Towbin, J. A., Keating, M. T., Lehmann, M. H., Hall, W. J., Andrews, M. L., Napolitano, C., Timothy, K., Zhang, L., Medina, A., & MacCluer, J. W. (1998). Influence of the genotype on the clinical course of the long-QT syndrome. New England Journal of Medicine, 339(14), 960-965. https://doi.org/10.1056/NEJM199810013391404

Zareba, W, Moss, AJ, Schwartz, PJ, Vincent, GM, Robinson, JL, Priori, SG, Benhorin, J, Locati, EH, Towbin, JA, Keating, MT, Lehmann, MH, Hall, WJ, Andrews, ML, Napolitano, C, Timothy, K, Zhang, L, Medina, A & MacCluer, JW 1998, 'Influence of the genotype on the clinical course of the long-QT syndrome', New England Journal of Medicine, vol. 339, no. 14, pp. 960-965. https://doi.org/10.1056/NEJM199810013391404

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title = "Influence of the genotype on the clinical course of the long-QT syndrome",

abstract = "Background. The congenital long-QT syndrome, caused by mutations in cardiac potassium-channel genes (KVLQT1 at the LQT1 locus and HERG at the LQT2 locus) and the sodium-channel gene (SCN5A at the LQT3 locus), has distinct repolarization patterns on electrocardiography, but it is not known whether the genotype influences the clinical course of the disease. Methods. We determined the genotypes of 541 of 1378 members of 38 families enrolled in the International Long-QT Syndrome Registry: 112 had mutations at the LQT1 locus, 72 had mutations at the LQT2 locus, and 62 had mutations at the LQT3 locus. We determined the cumulative probability and lethality of cardiac events (syncope, aborted cardiac arrest, or sudden death) occurring from birth through the age of 40 years according to genotype in the 246 gene carriers and in all 1378 members of the families studied. Results. The frequency of cardiac events was higher among subjects with mutations at the LQT1 locus (63 percent) or the LQT2 locus (46 percent) than among subjects with mutations at the LQT3 locus (18 percent) (P",

author = "Wojciech Zareba and Moss, {Arthur J.} and Schwartz, {Peter J.} and Vincent, {G. Michael} and Robinson, {Jennifer L.} and Priori, {Silvia G.} and Jesaia Benhorin and Locati, {Emanuela H.} and Towbin, {Jeffrey A.} and Keating, {Mark T.} and Lehmann, {Michael H.} and Hall, {W. Jackson} and Andrews, {Mark L.} and Carlo Napolitano and Katherine Timothy and Li Zhang and Aharon Medina and MacCluer, {Jean W.}",

year = "1998",

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doi = "10.1056/NEJM199810013391404",

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T1 - Influence of the genotype on the clinical course of the long-QT syndrome

AU - Zareba, Wojciech

AU - Moss, Arthur J.

AU - Schwartz, Peter J.

AU - Vincent, G. Michael

AU - Robinson, Jennifer L.

AU - Priori, Silvia G.

AU - Benhorin, Jesaia

AU - Locati, Emanuela H.

AU - Towbin, Jeffrey A.

AU - Keating, Mark T.

AU - Lehmann, Michael H.

AU - Hall, W. Jackson

AU - Andrews, Mark L.

AU - Napolitano, Carlo

AU - Timothy, Katherine

AU - Zhang, Li

AU - Medina, Aharon

AU - MacCluer, Jean W.

PY - 1998/10/1

Y1 - 1998/10/1

N2 - Background. The congenital long-QT syndrome, caused by mutations in cardiac potassium-channel genes (KVLQT1 at the LQT1 locus and HERG at the LQT2 locus) and the sodium-channel gene (SCN5A at the LQT3 locus), has distinct repolarization patterns on electrocardiography, but it is not known whether the genotype influences the clinical course of the disease. Methods. We determined the genotypes of 541 of 1378 members of 38 families enrolled in the International Long-QT Syndrome Registry: 112 had mutations at the LQT1 locus, 72 had mutations at the LQT2 locus, and 62 had mutations at the LQT3 locus. We determined the cumulative probability and lethality of cardiac events (syncope, aborted cardiac arrest, or sudden death) occurring from birth through the age of 40 years according to genotype in the 246 gene carriers and in all 1378 members of the families studied. Results. The frequency of cardiac events was higher among subjects with mutations at the LQT1 locus (63 percent) or the LQT2 locus (46 percent) than among subjects with mutations at the LQT3 locus (18 percent) (P

AB - Background. The congenital long-QT syndrome, caused by mutations in cardiac potassium-channel genes (KVLQT1 at the LQT1 locus and HERG at the LQT2 locus) and the sodium-channel gene (SCN5A at the LQT3 locus), has distinct repolarization patterns on electrocardiography, but it is not known whether the genotype influences the clinical course of the disease. Methods. We determined the genotypes of 541 of 1378 members of 38 families enrolled in the International Long-QT Syndrome Registry: 112 had mutations at the LQT1 locus, 72 had mutations at the LQT2 locus, and 62 had mutations at the LQT3 locus. We determined the cumulative probability and lethality of cardiac events (syncope, aborted cardiac arrest, or sudden death) occurring from birth through the age of 40 years according to genotype in the 246 gene carriers and in all 1378 members of the families studied. Results. The frequency of cardiac events was higher among subjects with mutations at the LQT1 locus (63 percent) or the LQT2 locus (46 percent) than among subjects with mutations at the LQT3 locus (18 percent) (P

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Influence of the genotype on the clinical course of the long-QT syndrome

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