The DOI matches its Crossref record; 19 of the 21 references it cites were found in a registry or an index.
ECG T-Wave Patterns in Genetically Distinct Forms of the Hereditary Long QT Syndrome
Abstract
BACKGROUND: The long QT syndrome is an inherited disorder with prolonged ventricular repolarization and a propensity to ventricular tachyarrhythmias and sudden arrhythmic death. Recent linkage studies have demonstrated three separate loci for this disorder on chromosomes 3, 7, and 11, and specific mutated genes for long QT syndrome have been identified on two of these chromosomes. We investigated ECG T-wave patterns (phenotypes) in members of families linked to three genetically distinct forms of the long QT syndrome. METHODS AND RESULTS: Five quantitative ECG repolarization parameters, ie, four Bazett-corrected time intervals (QTonset-c, QTpeak-c, QTc, and Tduration-c, in milliseconds) and the absolute height of the T wave (Tamplitude, in millivolts), were measured in 153 members of six families with long QT syndrome linked to markers on chromosomes 3 (n = 47), 7 (n = 30), and 11 (n = 76). Genotypic data were used to define each family member as being affected or unaffected with long QT syndrome. Affected members of all six families had longer QT intervals (QTonset-c, QTpeak-c, or QTc) than unaffected family members (P < .01). Each of the three long QT syndrome genotypes was associated with somewhat distinctive ECG repolarization features. Among affected individuals, the QTonset-c was unusually prolonged in those individuals with mutations involving the cardiac sodium channel gene SCN5A on chromosome 3 (lead II QTonset-c [mean +/- SD]: chromosome 3, 341 +/- 42 ms; chromosome 7, 290 +/- 56 ms; chromosome 11, 243 +/- 73 ms; P < .001); Tamplitude was generally quite small in the chromosome 7 genotype (lead II Tamplitude, mV: chromosome 3, 0.36 +/- 0.14; chromosome 7, 0.13 +/- 0.07; chromosome 11, 0.37 +/- 0.17; P < .001); and Tduration was particularly long in the chromosome 11 genotype (lead II Tduration-c: chromosome 3, 187 +/- 33 ms; chromosome 7, 191 +/- 51 ms; chromosome 11, 262 +/- 65 ms; P < .001). Similar ECG findings were observed in leads aVF and V5. A considerable variability exists in the quantitative repolarization parameters associated with each genotype, with overlap in the T-wave patterns among the three genotypes. CONCLUSIONS: Three separate genetic loci for the long QT syndrome including mutations in two cardiac ionic channel genes were associated with different phenotypic T-wave patterns on the ECG. This study provides insight into the influence of genetic factors on ECG manifestations of ventricular repolarization.
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“Long QT syndrome KCNQ1 KCNH2 SCN5A ANK2 others IKs IKr INa INa,K Various effects 5-10% 846-850”
From 2016 ESC Guidelines for the management of atrial fibrillation developed in collaboration with EACTS (2016) · cites this paper as [849]
Citations
Cites
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
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SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
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Moss, A. J., Schwartz, P. J., Crampton, R. S., Tzivoni, D., Locati, E. H., MacCluer, J. W., Hall, W. J., Weitkamp, L., Vincent, G. M., & Garson, A. (1991) · Circulation · doi:10.1161/01.cir.84.3.1136 · Cited by 966
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A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation.
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Vincent, G. M., Timothy, K. W., Leppert, M., & Keating, M. T. (1992) · New England Journal of Medicine · doi:10.1056/nejm199209173271204 · Cited by 621
Linkage of a Cardiac Arrhythmia, the Long QT Syndrome, and the Harvey ras -1 Gene
Keating, M. T., Atkinson, D. L., Dunn, C., Timothy, K. W., Vincent, G. M., & Leppert, M. (1991) · Science · doi:10.1126/science.1673802 · Cited by 516
Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity
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2016 ESC Guidelines for the management of atrial fibrillation developed in collaboration with EACTS
Kirchhof, P. F., Benussi, S., Kotecha, D., Ahlsson, A., Atar, D., Casadei, B., Castellà, M., Diener, H., Heidbüchel, H., Hendriks, J., et al. (2016) · EP Europace · doi:10.1093/europace/euw295 · Cited by 6,438
2016 ESC Guidelines for the management of atrial fibrillation developed in collaboration with EACTS
Kirchhof, P., Benussi, S., Kotecha, D., Ahlsson, A., Atar, D., Casadei, B., Castella, M., Diener, H.-C., Heidbuchel, H., Hendriks, J., et al. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehw210 · Cited by 6,418
Priori, S. G., Wilde, A. A., Horie, M., Cho, Y., Behr, E. R., Berul, C., Blom, N., Brugada, J., Chiang, C.-E., Huikuri, H., et al. (2013) · Heart Rhythm · doi:10.1016/j.hrthm.2013.05.014 · Cited by 1,942
Schwartz, P. J., Priori, S. G., Spazzolini, C., Moss, A. J., Vincent, G. M., Napolitano, C., Denjoy, I., Guicheney, P., Breithardt, G., Keating, M. T., et al. (2001) · Circulation · doi:10.1161/01.cir.103.1.89 · Cited by 1,779
Risk Stratification in the Long-QT Syndrome
Priori, S. G., Schwartz, P. J., Napolitano, C., Bloise, R., Ronchetti, E., Grillo, M., Vicentini, A., Spazzolini, C., Nastoli, J., Bottelli, G., et al. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa022147 · Cited by 1,456
Metadata
- Authors
- Moss, A. J., Zareba, W., Benhorin, J., Locati, E. H., Hall, W. J., Robinson, J. L., Schwartz, P. J., Towbin, J. A., Vincent, G. M., Lehmann, M. H., Keating, M. T., MacCluer, J. W., & Timothy, K. W.
- Affiliations
- Texas Biomedical Research Institute (US)
- From the Departments of Medicine (A.J.M., W.Z.), Community and Preventive Medicine (A.J.M., J.L.R.), and Biostatistics (W.J.H.), University of Rochester (NY) School of Medicine and Dentistry; Heiden Department of Cardiology, Bikur Cholim Hospital, Jerusalem, Israel (J.B.); Istituto di Clinica Medica Generale e Terapia Medica, University of Milan, Italy (E.H.L.); Section of Cardiology, Department of Internal Medicine, University of Pavia and Policlinico San Matteo IRCCS, Pavia, Italy (P.J.S.);...
- ORCID
- Venue
- Circulation
- Published
- 1995-11-15
- Volume
- 92
- Issue
- 10
- Pages
- 2929-2934
- ISSN
- 0009-7322 (ISSN-L)
- 1524-4539
- OpenAlex
- W2085199612
- Cited by
- 616
- References
- 21
- Citations by year
- 2026: 2 · 2025: 8 · 2024: 16 · 2023: 11 · 2022: 6 · 2021: 13 · 2020: 11 · 2019: 5 · 2018: 12 · 2017: 20 · 2016: 18 · 2015: 16 · 2014: 13 · 2013: 18 · 2012: 28
- FWCI
- 19.53
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Circulation (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Heart, Lung, and Blood Institute (R01 HL-51618, R01HL051618, R01HL-33843, R01HL033843)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
- Keywords
- QT interval, T-wave amplitude, T wave duration, SCN5A mutation, KCNQ1 mutation, chromosome 3, chromosome 7, chromosome 11, genotype-phenotype correlation, sudden cardiac death, ventricular repolarization, cardiac sodium channel
- MeSH terms
- Adult, Chromosome Mapping, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 3, Chromosomes, Human, Pair 7, Electrocardiography, Female, Genotype, Heart, Humans, Ion Channels, Genetic Linkage, Long QT Syndrome, Male, Mutation, Phenotype
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