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

Research output: Contribution to journalArticlepeer-review


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 languageEnglish
Pages (from-to)960-965
Number of pages6
JournalNew England Journal of Medicine
Issue number14
Publication statusPublished - Oct 1 1998

ASJC Scopus subject areas

  • Medicine(all)


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