Long QT syndrome with compound mutations is associated with a more severe phenotype: A Japanese multicenter study
Tài liệu tham khảo
Moss, 2004, Long QT syndrome: therapeutic considerations, 660
Shimizu, 2008, Clinical impact of genetic studies in lethal inherited cardiac arrhythmia, Circ J, 72, 1926, 10.1253/circj.CJ-08-0947
Goldenberg, 2008, Long QT syndrome, J Am Coll Cardiol, 51, 2291, 10.1016/j.jacc.2008.02.068
Chen, 2007, Mutation of an A-kinase-anchoring protein causes long-QT syndrome, Proc Natl Acad Sci U S A, 104, 20990, 10.1073/pnas.0710527105
Ueda, 2008, Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex, Proc Natl Acad Sci U S A, 105, 9355, 10.1073/pnas.0801294105
Romano, 1963, Aritmie cardiache rare in'eta pediatrica, Clin Pediatr, 45, 658
Ward, 1964, A new familial cardiac syndrome in children, J Irish Med Assoc, 54, 103
Jervell, 1957, Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death, Am Heart J, 54, 59, 10.1016/0002-8703(57)90079-0
Neyroud, 1997, A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome, Nat Genet, 15, 186, 10.1038/ng0297-186
Schulze-Bahr, 1997, KCNE1 mutations cause Jervell and Lange-Nielsen syndrome, Nat Genet, 17, 267, 10.1038/ng1197-267
Westenskow, 2004, Compound mutations: a common cause of severe long-QT syndrome, Circulation, 109, 1834, 10.1161/01.CIR.0000125524.34234.13
Tester, 2005, Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing, Heart Rhythm, 2, 507, 10.1016/j.hrthm.2005.01.020
Ohno, 2007, N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome, Heart Rhythm, 4, 332, 10.1016/j.hrthm.2006.11.004
Ai, 2002, Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia, Circulation, 105, 2592, 10.1161/01.CIR.0000019906.35135.A3
Andelfinger, 2002, KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes, Am J Hum Genet, 71, 663, 10.1086/342360
Jongbloed, 2002, DHPLC analysis of potassium ion channel genes in congenital long QT syndrome, Hum Mutat, 20, 382, 10.1002/humu.10131
Ackerman, 2003, Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome, Mayo Clin Proc, 78, 1479, 10.4065/78.12.1479
Kapplinger, 2009, Spectrum and prevalence of mutations from the first 2500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test, Heart Rhythm, 6, 1297, 10.1016/j.hrthm.2009.05.021
Kapa, 2009, Genetic testing for long-QT syndrome: distinguished pathogenic mutations from benign variants, Circulation, 120, 1752, 10.1161/CIRCULATIONAHA.109.863076
Schwartz, 1993, Diagnostic criteria for the long QT syndrome, Circulation, 88, 782, 10.1161/01.CIR.88.2.782
Moss, 1992, Clinical features of the idiopathic Long-QT syndrome, Circulation, 85, I140
Shimzu, 1997, Sodium channel block with mexiletine is effective in reducing dispersion of repolarization and preventing torsade des pointes in LQT2 and LQT3 models of the long-QT syndrome, Circulation, 96, 2038, 10.1161/01.CIR.96.6.2038
Bazett, 1920, An analysis of the time relations of electrocardiograms, Heart, 7, 353
Zareba, 2003, Modulating effects of age and gender on the clinical course of long QT syndrome by genotype, J Am Coll Cardiol, 42, 103, 10.1016/S0735-1097(03)00554-0
Schwartz, 2003, How really rare are rare disease?: the intriguing case of independent compound mutations in the long QT syndrome, J Cardiovasc Electrophysiol, 14, 1120, 10.1046/j.1540-8167.2003.03339.x
Nishio, 2009, D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome, J Am Coll Cardiol, 54, 812, 10.1016/j.jacc.2009.06.005
Priori, 2004, Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers, JAMA, 292, 1341, 10.1001/jama.292.11.1341
Vincent, 2009, High efficacy of beta-blockers in long-QT syndrome type 1: contribution of noncompliance and QT-prolonging drugs to the occurrence of beta-blocker treatment “failures”, Circulation, 119, 215, 10.1161/CIRCULATIONAHA.108.772533
Moss, 2007, Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene, Circulation, 115, 2481, 10.1161/CIRCULATIONAHA.106.665406
Shimizu, 2009, Genotype-phenotype aspects of type 2 long-QT syndrome, J Am Coll Cardiol, 54, 2052, 10.1016/j.jacc.2009.08.028
Kobori, 2004, Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome, J Cardiovasc Electrophysiol, 15, 190, 10.1046/j.1540-8167.2004.03212.x
Priori, 1999, A recessive variant of the Romano-Ward long-QT syndrome?, Circulation, 97, 2420, 10.1161/01.CIR.97.24.2420
Berthet, 1999, C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence, Circulation, 99, 1464, 10.1161/01.CIR.99.11.1464