Short QT syndrome. Update on a recent entity.
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.
Maury
Philippe
P
Fédération de cardiologie, hôpital universitaire Rangueil, 31059 Toulouse cedex 09, France. mauryjphil@hotmail.com
Extramiana
Fabrice
F
Sbragia
Pascal
P
Giustetto
Carla
C
Schimpf
Rainer
R
Duparc
Alexandre
A
Wolpert
Christian
C
Denjoy
Isabelle
I
Delay
Marc
M
Borggrefe
Martin
M
Gaita
Fiorenzo
F
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
D000889:Anti-Arrhythmia Agents; D015221:Potassium Channels; D011188:Potassium