Síndrome del QT largo congénito

EMC - Pediatría - Tập 36 - Trang 1-6 - 2001
J.M. Lupoglazoff1
1Attaché, chef de clinique des Universités, assistant des hôpitaux de Paris, service de cardiologie infantile, hôpital Robert Debré, 48, boulevard Sérurier, 75019 Paris, France

Tài liệu tham khảo

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 Ackerman, 1997, Ion channels-Basic science and clinical disease, N Engl J Med, 336, 1575, 10.1056/NEJM199705293362207 Bazett, 1920, An analysis of the time-relations of electrocardiograms, Heart, 7, 353 Curran, 1995, A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome, Cell, 80, 795, 10.1016/0092-8674(95)90358-5 Donger, 1997, QVLTI C-terminal missense mutation causes for forme frustre long QT syndrome, Circulation, 96, 2778, 10.1161/01.CIR.96.9.2778 Hayoun, 1995, Syndrome de QT long congénital: indication élective du traitement bêtabloquant. À propos de 5 observations, Arch Mal Cœur, 88, 737 Jervell, 1957, Congenital deaf-mutism, functional heart disease with prolongation of the QT interval and sudden death, Am Heart J, 54, 59, 10.1016/0002-8703(57)90079-0 Keating, 1991, Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene, Science, 252, 704, 10.1126/science.1673802 LeHeuzey, 1998, Intervalle QT et médicaments: recommandations pour la prescription des médicaments chez les patients atteints du SQTL congénital, Arch Mal Cœur, 91, 59 Lepeschkin, 1952, The measurement of the QT interval of the electrocardiogram, Circulation, 6, 378, 10.1161/01.CIR.6.3.378 Locati, 1998, Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome, Circulation, 97, 2237, 10.1161/01.CIR.97.22.2237 Lupoglazoff, 2001, Notched T waves on Holter recordings enhance detection of LQT2 (HERG) mutations, Circulation, 103, 1095, 10.1161/01.CIR.103.8.1095 Makkar, 1993, Female gender as a risk factor for torsades de pointes associated with cardiovascular drugs, JAMA, 270, 2590, 10.1001/jama.1993.03510210076031 Moss, 1991, Efficacy of permanent pacing in the management of high-risk patients with long QT syndrome, Circulation, 84, 1524, 10.1161/01.CIR.84.4.1524 Moss, 1991, The long QT syndrome: prospective longitudinal study of 328 families, Circulation, 84, 1136, 10.1161/01.CIR.84.3.1136 Moss, 1995, ECGT-wave patterns in genetically distinct forms of the hereditary long QT syndrome, Circulation, 92, 2929, 10.1161/01.CIR.92.10.2929 Moss, 2000, Effectiveness and limitations of beta-blocker therapy in congenital long QT syndrome, Circulation, 101, 616, 10.1161/01.CIR.101.6.616 Neyroud, 1998, Diagnostic performance of QT interval variables from 24-hour electrocardiography in the long QT syndrome, Eur Heart J, 19, 158, 10.1053/euhj.1997.0730 Pinson, 2000, La cardiogénétique en I'an 2000, Arch Mal Cœur, 93, 595 Priori, 1999, Low penetrance in the long-QT syndrome: clinical impact, Circulation, 99, 529, 10.1161/01.CIR.99.4.529 Rashba, 1998, Influence of pregnancy on the risk for cardiac events in patients with hereditary long QT syndrome, Circulation, 97, 451, 10.1161/01.CIR.97.5.451 Roden, 1996, Multiple mechanisms in the long QT syndrome. Current knowledge, gaps, and future directions, Circulation, 94, 1996, 10.1161/01.CIR.94.8.1996 Romano, 1963, Arithmie cardiache rare dell'età pediatrica. II: accessi sincopali per fibrillazione ventricolare parossistica. Presentazione del primo cas della letteratura pediatrica italiana, Clin Pediatr, 45, 659 Sanguinetti, 1995, Mechanistic link between an herited and acquired cardiac arrhythmia: HERG encodes the lkr potassium channel, Cell, 81, 299, 10.1016/0092-8674(95)90340-2 Schott, 1995, Mapping of a gene for long QT syndrome to chromosome 4q25–27, Am J Hum Genet, 57, 1114 Schwartz, 1982, The ST interval thoughtout the first 6 months of life: a prospective study, Circulation, 66, 496, 10.1161/01.CIR.66.3.496 Schwartz, 1993, Diagnostic criteria for the long QT syndrome: an update, Circulation, 88, 782, 10.1161/01.CIR.88.2.782 Schwartz, 1995, Long QT syndrome patients with mutations on the SCNA and HERG genes have differential responses to Na+ channel blockade and to increase in heart rate. Implications for gene specific therapy, Circulation, 92, 3381, 10.1161/01.CIR.92.12.3381 Schwartz, 1998, Pronlongation of the QT interval and the sudden infant death syndrome, N Engl J Med, 338, 1709, 10.1056/NEJM199806113382401 Splawski, 2000, Spectrum of mutations in long-QT syndrome genes: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2, Circulation, 102, 1178, 10.1161/01.CIR.102.10.1178 Splawski, 1997, Molecular basis of the long QT syndrome associated with deafness, N Engl J Med, 336, 1562, 10.1056/NEJM199705293362204 Splawski, 1997, Mutations in the hminK gene cause long QT syndrome and supress lks function, Nat Genet, 17, 338, 10.1038/ng1197-338 Swan, 1999, Sinus node function and ventricular repolarisation during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects, J Am Coll Cardiol, 34, 823, 10.1016/S0735-1097(99)00255-7 Vincent, 1992, The spectrum of symptoms and QT intervals in carriers of the gene for the long QT syndrome, N Engl J Med, 327, 846, 10.1056/NEJM199209173271204 Wang, 1997, Molecular genetics of long QT syndrome from genes to patients, Curr Opin Cardiol, 12, 310, 10.1097/00001573-199705000-00013 Wang, 1996, Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias, Nat Genet, 12, 17, 10.1038/ng0196-17 Wang, 1995, SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome, Cell, 80, 805, 10.1016/0092-8674(95)90359-3 Ward, 1964, A new familial cardiac syndrome in children, J Irish Med Assoc, 54, 103 Weintraub, 1990, The congenital long QT syndromes in childhood, J Am Coll Cardiol, 16, 674, 10.1016/0735-1097(90)90359-W Wilde, 1999, Auditory stimuli as a trigger for arrhythmic events differenciate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1), J Am Coll Cordiol, 33, 327, 10.1016/S0735-1097(98)00578-6 Zareba, 1995, Risk of cardiac events in family members of patients with long QT syndromes, J Am Coll Cordiol, 26, 1685, 10.1016/0735-1097(95)60383-2 Zareba, 1998, Influence of the genotype on the clinical course of the long-QT syndrome, N Engl J Med, 339, 960, 10.1056/NEJM199810013391404