title: Short QT syndrome. Update on a recent entity.
abstract: The short QT syndrome, a recently discovered ion channel disorder, combines shortened repolarization, a predisposition to atrial and ventricular fibrillatory arrhythmias, and a risk of sudden death. Few cases have been reported, but the prevalence may be underestimated. This syndrome might account for some cases of unexplained ventricular fibrillation in patients with otherwise healthy hearts. Patients have abnormally short QT intervals and refractory periods, and atrial/ventricular fibrillation can be triggered during investigations. Gain-of-function mutations have been detected in three genes encoding potassium channels. Treatment is based on defibrillator implantation, sometimes as a preventive measure. Quinidine may be beneficial in certain cases.
authors.affiliation: Fédération de cardiologie, hôpital universitaire Rangueil, 31059 Toulouse cedex 09, France. mauryjphil@hotmail.com
authors.forename: Philippe
authors.initials: P
authors.lastname: Maury
authors.forename: Fabrice
authors.initials: F
authors.lastname: Extramiana
authors.forename: Pascal
authors.initials: P
authors.lastname: Sbragia
authors.forename: Carla
authors.initials: C
authors.lastname: Giustetto
authors.forename: Rainer
authors.initials: R
authors.lastname: Schimpf
authors.forename: Alexandre
authors.initials: A
authors.lastname: Duparc
authors.forename: Christian
authors.initials: C
authors.lastname: Wolpert
authors.forename: Isabelle
authors.initials: I
authors.lastname: Denjoy
authors.forename: Marc
authors.initials: M
authors.lastname: Delay
authors.forename: Martin
authors.initials: M
authors.lastname: Borggrefe
authors.forename: Fiorenzo
authors.initials: F
authors.lastname: Gaita
mesh_terms: D000200:Action Potentials; D000889:Anti-Arrhythmia Agents / Q000627:therapeutic use; D001145:Arrhythmias, Cardiac / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism* / Q000628:therapy; D001281:Atrial Fibrillation / Q000209:etiology / Q000378:metabolism; D016757:Death, Sudden, Cardiac; D017147:Defibrillators, Implantable; D004562:Electrocardiography; D006329:Heart Conduction System / Q000378:metabolism*; D006801:Humans; D009154:Mutation; D011188:Potassium / Q000378:metabolism*; D015221:Potassium Channels / Q000235:genetics / Q000378:metabolism*; D013577:Syndrome; D013997:Time Factors; D016896:Treatment Outcome; D014693:Ventricular Fibrillation / Q000235:genetics / Q000378:metabolism
chemical_list: D000889:Anti-Arrhythmia Agents; D015221:Potassium Channels; D011188:Potassium