T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome

Heart Rhythm - Tập 1 - Trang 285-292 - 2004
Jørgen K. Kanters1,2,3,4,5,6, Søren Fanoe1,2,6, Lars A. Larsen4,7, Poul Erik Bloch Thomsen3, Egon Toft5,8, Michael Christiansen4,6
1Department of Medicine, Elsinore Hospital, Helsingør, Denmark
2Laboratory of Experimental Cardiology, Department of Medical Physiology, University of Copenhagen, Copenhagen, Denmark
3Department of Cardiology P, Gentofte University Hospital, Copenhagen, Denmark
4Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark
5Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark
6Copenhagen Heart Arrhythmia Research Center (CHARC), Copenhagen, Denmark
7Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Genetics, University of Copenhagen, Copenhagen, Denmark
8Department of Health Science and Technology, Aalborg University, Aalborg, Denmark

Tài liệu tham khảo

Bazett, 1920, An analysis of time relations of electrocardiograms, Heart, 7, 353 Benhorin, 1990, Long QT syndrome, Circulation, 82, 521, 10.1161/01.CIR.82.2.521 Merri, 1989, Electrocardiographic quantitation of ventricular repolarization, Circulation, 80, 1301, 10.1161/01.CIR.80.5.1301 Wang, 1996, Positional cloning of a novel potassium channel gene, Nat Genet, 12, 17, 10.1038/ng0196-17 Curran, 1995, A molecular basis for cardiac arrhythmia, Cell, 80, 795, 10.1016/0092-8674(95)90358-5 Schulze-Bahr, 1997, KCNE1 mutations cause Jervell and Lange-Nielsen syndrome, Nat Genet, 17, 267, 10.1038/ng1197-267 Abbott, 1999, MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia, Cell, 97, 175, 10.1016/S0092-8674(00)80728-X Plaster, 2001, Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen’s syndrome, Cell, 105, 511, 10.1016/S0092-8674(01)00342-7 Wang, 1995, SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome, Cell, 80, 805, 10.1016/0092-8674(95)90359-3 Mohler, 2003, Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death, Nature, 421, 634, 10.1038/nature01335 Schwartz, 2001, Genotype-phenotype correlation in the long-QT syndrome, Circulation, 103, 89, 10.1161/01.CIR.103.1.89 Moss, 1999, Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome, Am J Cardiol, 84, 876, 10.1016/S0002-9149(99)00458-0 Wilde, 1999, Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1), J Am Coll Cardiol, 33, 327, 10.1016/S0735-1097(98)00578-6 Moss, 1995, ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome, Circulation, 92, 2929, 10.1161/01.CIR.92.10.2929 Lupoglazoff, 2001, Notched T waves on Holter recordings enhance detection of patients with LQT2 (HERG) mutations, Circulation, 103, 1095, 10.1161/01.CIR.103.8.1095 Larsen, 2001, Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel, Clin Chem, 47, 1390, 10.1093/clinchem/47.8.1390 Larsen, 2000, Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2, Clin Genet, 57, 125, 10.1034/j.1399-0004.2000.570206.x Kanters, 1998, Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome, J Cardiovasc Electrophysiol, 9, 620, 10.1111/j.1540-8167.1998.tb00944.x Larsen, 1999, A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome, Clin Chim Acta, 280, 113, 10.1016/S0009-8981(98)00177-6 Larsen, 1999, Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene, Eur J Hum Genet, 7, 724, 10.1038/sj.ejhg.5200323 Zhang, 2000, Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome, Circulation, 102, 2849, 10.1161/01.CIR.102.23.2849 Yan, 1998, Cellular basis for the normal T wave and the electrocardiographic manifestations of the long-QT syndrome, Circulation, 98, 1928, 10.1161/01.CIR.98.18.1928 Sanguinetti, 1995, A mechanistic link between an inherited and an acquired cardiac arrhythmia, Cell, 81, 299, 10.1016/0092-8674(95)90340-2 Sanguinetti, 1996, Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel, Nature, 384, 80, 10.1038/384080a0 Antzelevitch, 2002, Cellular mechanisms underlying the long QT syndrome, Curr Opin Cardiol, 17, 43, 10.1097/00001573-200201000-00007 January, 2000, Long QT syndrome, J Cardiovasc Electrophysiol, 11, 1413, 10.1046/j.1540-8167.2000.01413.x Sunagawa, 1998, Dynamic control of arterial blood pressure by the sympathetic baroreflex, Fund Clin Pharmacol, 12, 23s, 10.1111/j.1472-8206.1998.tb01028.x Shimizu, 1998, Cellular basis for the ECG features of the LQT1 form of the long-QT syndrome, Circulation, 98, 2314, 10.1161/01.CIR.98.21.2314 di Bernardo, 2002, Effect of changes in heart rate and in action potential duration on the electrocardiogram T wave shape, Physiol Meas, 23, 355, 10.1088/0967-3334/23/2/311 Zabel, 2000, Analysis of 12-lead T-wave morphology for risk stratification after myocardial infarction, Circulation, 102, 1252, 10.1161/01.CIR.102.11.1252 Brugada, 2004, Sudden death associated with short-QT syndrome linked to mutations in HERG, Circulation, 109, 30, 10.1161/01.CIR.0000109482.92774.3A Sanguinetti, 1996, Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia, Proc Natl Acad Sci USA, 93, 2208, 10.1073/pnas.93.5.2208