Diagnosis, Differential; Electrocardiography; Humans; Long QT Syndrome/congenital/diagnosis/genetics/therapy; Prognosis
Résumé :
[en] The congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval > 440 ms at rest ECG associated with a high risk of ventricular arrhythmias (torsade de pointe). Clinical manifestations are syncope and sudden cardiac death. The implicated genes encode cardiac ion channel subunits or proteins involved in modulating ionic currents. The diagnosis of LQTS can be complex in borderline cases. Etiology, pathogenesis, diagnosis and treatment are discussed.
Disciplines :
Systèmes cardiovasculaire & respiratoire
Auteur, co-auteur :
GARWEG, Christophe ; Centre Hospitalier Universitaire de Liège - CHU > Cardiologie
D'Orio, Vincenzo ; Université de Liège - ULiège > Département des sciences cliniques > Médecine d'urgence - bioch. et phys. hum. normales et path.
MELON, Pierre ; Centre Hospitalier Universitaire de Liège - CHU > Cardiologie
Chiang CE, Roden DM.- The long QT syndromes : genetic basis and clinical implications. J Am Coll Cardiol, 2000, 36, 1-12.
Crotti L, Celano G, Dagradi F, et al.- Congenital long QT syndrome. Orph J Rare Dis, 2008, 3 :18 DOI : 10.1186
Spawski I, Shen J, Thimothy K, et al.- Spectrum of mutations in long QT syndrome genes : KVLQT1, HERG, SCN5A, KCNE1 and KCNE2. Circulation, 2000, 102, 1178-1185.
Newton-Cheh C, Eijgelsheim M, Rice KM, et al.- Common variants at ten loci influences QT interval duration in the QTGEN study. Nat Gen, 2009, 41, 399-406.
Pfeufer A, Sanna S, Arking DE, et al.- Common variants at ten loci influences QT interval duration in the QTSCD study. Nat Gen, 2009, 41, 407-414.
Priori SG, Schwartz PJ, Napolitano C, et al.- Risk stratification in the long QT syndrome. N Eng J Med, 2003, 348, 1866-1874.
Zareba W, Moss AJ, Schwartz PJ, et al.- Influence of the genotype on the clinical course of the long QT syndrome. N Eng J Med, 1998, 339, 960-965. (Pubitemid 28455098)
Swan H, Viitasalo M, Piipo K, et al.- 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, 1999, 34, 823-829.
Schwartz PJ, Priori SG, Spazzolini C, et al.- Genotype phenotype correlation in the long QT syndrome : specific triggers for life threatening arrhythmias. Circulation, 2001, 103, 89-95.
Takenaka K, Ai T, Shimizu W, et al.- Exercise stress test amplifies genotype-phenotype correlation in the LQT 1 and LQT2 forms of the long QT syndrome. - Circulation, 2003, 107, 838-844.
Khan IA.- Long QT syndrome : diagnosis and management. Am Heart J, 2002, 143, 7-14. (Pubitemid 34056368)
Moss AJ, Zareba W, Hall WJ, et al.- Effectiveness and limitations of beta-blocker therapy in congenital long QT syndrome. Circulation, 2000, 101, 616-623.
