Prevalence of the Congenital Long-QT Syndrome
作者： Peter J. Schwartz , Marco Stramba-Badiale , Lia Crotti , Matteo Pedrazzini , Alessandra Besana
DOI: 10.1161/CIRCULATIONAHA.109.863209
关键词:
摘要: Background— The prevalence of genetic arrhythmogenic diseases is unknown. For the long-QT syndrome (LQTS), figures ranging from 1:20 000 to 1:5000 were published, but none was based on actual data. Our objective define LQTS. Methods and Results— In 18 maternity hospitals, an ECG performed in 44 596 infants 15 25 days old (43 080 whites). with a corrected QT interval (QTc) >450 ms, repeated within 1 2 weeks. Genetic analysis, by screening 7 LQTS genes, 28 31 (90%) 14 (50%) with, respectively, QTc >470 ms or between 461 470 ms. A 451 460, 470, observed 177 (0.41%), (0.06%), (0.07%). Among genotyped infants, disease-causing mutations found 12 (43%) 4 (29%) One genotype-negative infant (QTc 482 ms) diagnosed as affected clinical grounds. family members gen...
cabdirect.org
elsevier.com
sci-hub.se 参考文章(50)
K. Ueda, C. Valdivia, A. Medeiros-Domingo, D. J. Tester, M. Vatta, G. Farrugia, M. J. Ackerman, J. C. Makielski, Syntrophin mutation associated with long QT syndrome through activation of the nNOS–SCN5A macromolecular complex Proceedings of the National Academy of Sciences of the United States of America. ,vol. 105, pp. 9355- 9360 ,(2008) , 10.1073/PNAS.0801294105
Peter Westenskow, Igor Splawski, Katherine W. Timothy, Mark T. Keating, Michael C. Sanguinetti, Compound mutations: a common cause of severe long-QT syndrome. Circulation. ,vol. 109, pp. 1834- 1841 ,(2004) , 10.1161/01.CIR.0000125524.34234.13
Igor Splawski, Jiaxiang Shen, Katherine W. Timothy, Michael H. Lehmann, Silvia Priori, Jennifer L. Robinson, Arthur J. Moss, Peter J. Schwartz, Jeffrey A. Towbin, G. Michael Vincent, Mark T. Keating, Spectrum of Mutations in Long-QT Syndrome Genes KVLQT1, HERG, SCN5A, KCNE1, and KCNE2 Circulation. ,vol. 102, pp. 1178- 1185 ,(2000) , 10.1161/01.CIR.102.10.1178
Peter J Schwartz, Silvia G Priori, Raffaella Bloise, Carlo Napolitano, Elena Ronchetti, Andrea Piccinini, Carlo Goj, Günter Breithardt, Eric Schulze-Bahr, Horst Wedekind, Janni Nastoli, Molecular diagnosis in a child with sudden infant death syndrome The Lancet. ,vol. 358, pp. 1342- 1343 ,(2001) , 10.1016/S0140-6736(01)06450-9
Peter J. Schwartz, Cardiac sympathetic innervation and the sudden infant death syndrome The American Journal of Medicine. ,vol. 60, pp. 167- 172 ,(1976) , 10.1016/0002-9343(76)90425-3
Qing Wang, Jiaxiang Shen, Igor Splawski, Donald Atkinson, Zhizhong Li, Jennifer L Robinson, Arthur J Moss, Jeffrey A Towbin, Mark T Keating, SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome Cell. ,vol. 80, pp. 805- 811 ,(1995) , 10.1016/0092-8674(95)90359-3
F. Sesti, G. W. Abbott, J. Wei, K. T. Murray, S. Saksena, P. J. Schwartz, S. G. Priori, D. M. Roden, A. L. George, S. A. N. Goldstein, A common polymorphism associated with antibiotic-induced cardiac arrhythmia Proceedings of the National Academy of Sciences of the United States of America. ,vol. 97, pp. 10613- 10618 ,(2000) , 10.1073/PNAS.180223197
P Schwartz, Guidelines for the interpretation of the neonatal electrocardiogram A Task Force of the European Society of Cardiology European Heart Journal. ,vol. 23, pp. 1329- 1344 ,(2002) , 10.1053/EUHJ.2002.3274
Peter J. Schwartz, Maurizio Periti, Alberto Malliani, The long Q-T syndrome. American Heart Journal. ,vol. 89, pp. 378- 390 ,(1975) , 10.1016/0002-8703(75)90089-7
Matteo Vatta, Michael J. Ackerman, Bin Ye, Jonathan C. Makielski, Enoh E. Ughanze, Erica W. Taylor, David J. Tester, Ravi C. Balijepalli, Jason D. Foell, Zhaohui Li, Timothy J. Kamp, Jeffrey A. Towbin, Mutant Caveolin-3 Induces Persistent Late Sodium Current and Is Associated With Long-QT Syndrome Circulation. ,vol. 114, pp. 2104- 2112 ,(2006) , 10.1161/CIRCULATIONAHA.106.635268