Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome

ECG findings identify genotypes

L. Zhang, K. W. Timothy, G. M. Vincent, M. H. Lehmann, J. Fox, L. C. Giuli, J. Shen, I. Splawski, S. G. Priori, S. J. Compton, F. Yanowitz, J. Benhorin, A. J. Moss, P. J. Schwartz, J. L. Robinson, Q. Wang, W. Zareba, M. T. Keating, Jeffrey Towbin, C. Napolitano & 1 others A. Medina

Research output: Contribution to journalArticle

357 Citations (Scopus)

Abstract

Background - Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na+ current (LQT3), resulting in ST-T-wave abnormalities on the ECG. This study evaluated the spectrum of ST-T-wave patterns and repolarization parameters by genotype and determined whether genotype could be identified by ECG. Methods and Results - ECGs of 284 gene carriers were studied to determine ST-T-wave patterns, and repolarization parameters were quantified. Genotypes were identified by individual ECG versus family-grouped ECG analysis in separate studies using ECGs of 146 gene carriers from 29 families and 233 members of 127 families undergoing molecular genotyping, respectively. Ten typical ST-T patterns (4 LQT1, 4 LQT2, and 2 LQT3) were present in 88% of LQT1 and LQT2 carriers and in 65% of LQT3 carriers. Repolarization parameters also differed by genotype. A combination of quantified repolarization parameters identified genotype with sensitivity/specificity of 85%/70% for LQT1, 83%/94% for LQT2, and 47%/63% for LQT3. Typical patterns in family-grouped ECGs best identified the genotype, being correct in 56 of 56 (21 LQT1, 33 LQT2, and 2 LQT3) families with mutation results. Conclusions - Typical ST-T-wave patterns are present in the majority of genotyped LQTS patients and can be used to identify LQT1, LQT2, and possibly LQT3 genotypes. Family-grouped ECG analysis improves genotype identification accuracy. This approach can simplify genetic screening by targeting the gene for initial study. The multiple ST-T patterns in each genotype raise questions regarding the pathophysiology and regulation of repolarization in LQTS.

Original languageEnglish (US)
Pages (from-to)2849-2855
Number of pages7
JournalCirculation
Volume102
Issue number23
DOIs
StatePublished - Dec 5 2000
Externally publishedYes

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Long QT Syndrome
Electrocardiography
Genotype
Genes
Mutation
Gene Targeting
Genetic Testing
Sensitivity and Specificity

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

Cite this

Zhang, L., Timothy, K. W., Vincent, G. M., Lehmann, M. H., Fox, J., Giuli, L. C., ... Medina, A. (2000). Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation, 102(23), 2849-2855. https://doi.org/10.1161/01.CIR.102.23.2849

Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome : ECG findings identify genotypes. / Zhang, L.; Timothy, K. W.; Vincent, G. M.; Lehmann, M. H.; Fox, J.; Giuli, L. C.; Shen, J.; Splawski, I.; Priori, S. G.; Compton, S. J.; Yanowitz, F.; Benhorin, J.; Moss, A. J.; Schwartz, P. J.; Robinson, J. L.; Wang, Q.; Zareba, W.; Keating, M. T.; Towbin, Jeffrey; Napolitano, C.; Medina, A.

In: Circulation, Vol. 102, No. 23, 05.12.2000, p. 2849-2855.

Research output: Contribution to journalArticle

Zhang, L, Timothy, KW, Vincent, GM, Lehmann, MH, Fox, J, Giuli, LC, Shen, J, Splawski, I, Priori, SG, Compton, SJ, Yanowitz, F, Benhorin, J, Moss, AJ, Schwartz, PJ, Robinson, JL, Wang, Q, Zareba, W, Keating, MT, Towbin, J, Napolitano, C & Medina, A 2000, 'Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes', Circulation, vol. 102, no. 23, pp. 2849-2855. https://doi.org/10.1161/01.CIR.102.23.2849
Zhang, L. ; Timothy, K. W. ; Vincent, G. M. ; Lehmann, M. H. ; Fox, J. ; Giuli, L. C. ; Shen, J. ; Splawski, I. ; Priori, S. G. ; Compton, S. J. ; Yanowitz, F. ; Benhorin, J. ; Moss, A. J. ; Schwartz, P. J. ; Robinson, J. L. ; Wang, Q. ; Zareba, W. ; Keating, M. T. ; Towbin, Jeffrey ; Napolitano, C. ; Medina, A. / Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome : ECG findings identify genotypes. In: Circulation. 2000 ; Vol. 102, No. 23. pp. 2849-2855.
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abstract = "Background - Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na+ current (LQT3), resulting in ST-T-wave abnormalities on the ECG. This study evaluated the spectrum of ST-T-wave patterns and repolarization parameters by genotype and determined whether genotype could be identified by ECG. Methods and Results - ECGs of 284 gene carriers were studied to determine ST-T-wave patterns, and repolarization parameters were quantified. Genotypes were identified by individual ECG versus family-grouped ECG analysis in separate studies using ECGs of 146 gene carriers from 29 families and 233 members of 127 families undergoing molecular genotyping, respectively. Ten typical ST-T patterns (4 LQT1, 4 LQT2, and 2 LQT3) were present in 88{\%} of LQT1 and LQT2 carriers and in 65{\%} of LQT3 carriers. Repolarization parameters also differed by genotype. A combination of quantified repolarization parameters identified genotype with sensitivity/specificity of 85{\%}/70{\%} for LQT1, 83{\%}/94{\%} for LQT2, and 47{\%}/63{\%} for LQT3. Typical patterns in family-grouped ECGs best identified the genotype, being correct in 56 of 56 (21 LQT1, 33 LQT2, and 2 LQT3) families with mutation results. Conclusions - Typical ST-T-wave patterns are present in the majority of genotyped LQTS patients and can be used to identify LQT1, LQT2, and possibly LQT3 genotypes. Family-grouped ECG analysis improves genotype identification accuracy. This approach can simplify genetic screening by targeting the gene for initial study. The multiple ST-T patterns in each genotype raise questions regarding the pathophysiology and regulation of repolarization in LQTS.",
author = "L. Zhang and Timothy, {K. W.} and Vincent, {G. M.} and Lehmann, {M. H.} and J. Fox and Giuli, {L. C.} and J. Shen and I. Splawski and Priori, {S. G.} and Compton, {S. J.} and F. Yanowitz and J. Benhorin and Moss, {A. J.} and Schwartz, {P. J.} and Robinson, {J. L.} and Q. Wang and W. Zareba and Keating, {M. T.} and Jeffrey Towbin and C. Napolitano and A. Medina",
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T1 - Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome

T2 - ECG findings identify genotypes

AU - Zhang, L.

AU - Timothy, K. W.

AU - Vincent, G. M.

AU - Lehmann, M. H.

AU - Fox, J.

AU - Giuli, L. C.

AU - Shen, J.

AU - Splawski, I.

AU - Priori, S. G.

AU - Compton, S. J.

AU - Yanowitz, F.

AU - Benhorin, J.

AU - Moss, A. J.

AU - Schwartz, P. J.

AU - Robinson, J. L.

AU - Wang, Q.

AU - Zareba, W.

AU - Keating, M. T.

AU - Towbin, Jeffrey

AU - Napolitano, C.

AU - Medina, A.

PY - 2000/12/5

Y1 - 2000/12/5

N2 - Background - Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na+ current (LQT3), resulting in ST-T-wave abnormalities on the ECG. This study evaluated the spectrum of ST-T-wave patterns and repolarization parameters by genotype and determined whether genotype could be identified by ECG. Methods and Results - ECGs of 284 gene carriers were studied to determine ST-T-wave patterns, and repolarization parameters were quantified. Genotypes were identified by individual ECG versus family-grouped ECG analysis in separate studies using ECGs of 146 gene carriers from 29 families and 233 members of 127 families undergoing molecular genotyping, respectively. Ten typical ST-T patterns (4 LQT1, 4 LQT2, and 2 LQT3) were present in 88% of LQT1 and LQT2 carriers and in 65% of LQT3 carriers. Repolarization parameters also differed by genotype. A combination of quantified repolarization parameters identified genotype with sensitivity/specificity of 85%/70% for LQT1, 83%/94% for LQT2, and 47%/63% for LQT3. Typical patterns in family-grouped ECGs best identified the genotype, being correct in 56 of 56 (21 LQT1, 33 LQT2, and 2 LQT3) families with mutation results. Conclusions - Typical ST-T-wave patterns are present in the majority of genotyped LQTS patients and can be used to identify LQT1, LQT2, and possibly LQT3 genotypes. Family-grouped ECG analysis improves genotype identification accuracy. This approach can simplify genetic screening by targeting the gene for initial study. The multiple ST-T patterns in each genotype raise questions regarding the pathophysiology and regulation of repolarization in LQTS.

AB - Background - Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na+ current (LQT3), resulting in ST-T-wave abnormalities on the ECG. This study evaluated the spectrum of ST-T-wave patterns and repolarization parameters by genotype and determined whether genotype could be identified by ECG. Methods and Results - ECGs of 284 gene carriers were studied to determine ST-T-wave patterns, and repolarization parameters were quantified. Genotypes were identified by individual ECG versus family-grouped ECG analysis in separate studies using ECGs of 146 gene carriers from 29 families and 233 members of 127 families undergoing molecular genotyping, respectively. Ten typical ST-T patterns (4 LQT1, 4 LQT2, and 2 LQT3) were present in 88% of LQT1 and LQT2 carriers and in 65% of LQT3 carriers. Repolarization parameters also differed by genotype. A combination of quantified repolarization parameters identified genotype with sensitivity/specificity of 85%/70% for LQT1, 83%/94% for LQT2, and 47%/63% for LQT3. Typical patterns in family-grouped ECGs best identified the genotype, being correct in 56 of 56 (21 LQT1, 33 LQT2, and 2 LQT3) families with mutation results. Conclusions - Typical ST-T-wave patterns are present in the majority of genotyped LQTS patients and can be used to identify LQT1, LQT2, and possibly LQT3 genotypes. Family-grouped ECG analysis improves genotype identification accuracy. This approach can simplify genetic screening by targeting the gene for initial study. The multiple ST-T patterns in each genotype raise questions regarding the pathophysiology and regulation of repolarization in LQTS.

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