Copyright © 2005, European Society of Cardiology
Short QT syndrome
a1st Department of Medicine-Cardiology, University Hospital Mannheim, Theodor-Kutzer-Ufer 1-3, D-68167 Mannheim, Germany
bDepartment of Cardiology, Ospedale Civile Asti, Italy
* Corresponding author. Tel.: +49 621 3832206; fax: +49 621 3833061. Email address: rainer.schimpf{at}med.ma.uni-heidelberg.de
The short QT syndrome constitutes a new clinical entity that is associated with a high incidence of sudden cardiac death, syncope, and/or atrial fibrillation even in young patients and newborns. Patients with this congenital electrical abnormality are characterized by rate-corrected QT intervals<320 ms. Missense mutations in KCNH2 (HERG) linked to a gain-of-function of the rapidly activating delayed-rectifier current IKr have been identified in the first two reported families with familial sudden cardiac death. Recently, two further gain-of-function mutations in the KCNQ1 gene encoding the 
-subunit of the KvLQT1 (IKs) channel and in the KCNJ2 gene encoding the strong inwardly rectifying channel protein Kir2.1 confirmed a genetically heterogeneous disease. The possible substrate for the development of ventricular tachyarrhythmias may be a significant transmural dispersion of the repolarisation due to a heterogeneous abbreviation of the action potential duration. The implantable cardioverter defibrillator is the therapy of choice in patients with syncope and a positive family history of sudden cardiac death. However, ICD therapy in patients with a short QT syndrome has an increased risk for inappropriate shock therapies due to possible T wave oversensing. The impact of sotalol, ibutilide, flecainide, and quinidine on QT prolongation has been evaluated, but only quinidine effectively suppressed gain-of-function in IKr with prolongation of the QT interval. In patients with a mutation in HERG, it rendered ventricular tachycardias/ventricular fibrillation non-inducible and restored the QT interval/heart rate relationship towards a normal range. It may serve as an adjunct to ICD therapy or as a possible alternative treatment, especially for children and newborns.
KEYWORDS Heart desease; Short QT syndrome; Sudden cardiac death; Atrial fibrillation
Time for primary review 18 days
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S. Tzeis, G. Andrikopoulos, C. Kolb, and P. E. Vardas Tools and strategies for the reduction of inappropriate implantable cardioverter defibrillator shocks Europace, August 15, 2008; (2008) eun205v1. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Hassel, E. P. Scholz, N. Trano, O. Friedrich, S. Just, B. Meder, D. L. Weiss, E. Zitron, S. Marquart, B. Vogel, et al. Deficient Zebrafish Ether-a-Go-Go-Related Gene Channel Gating Causes Short-QT Syndrome in Zebrafish Reggae Mutants Circulation, February 19, 2008; 117(7): 866 - 875. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. A. Beery, K. A. Shooner, and D. W. Benson Neonatal Long QT Syndrome Due to a De Novo Dominant Negative hERG Mutation Am. J. Crit. Care., July 1, 2007; 16(4): 416 - 412. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Giustetto, F. Di Monte, C. Wolpert, M. Borggrefe, R. Schimpf, P. Sbragia, G. Leone, P. Maury, O. Anttonen, M. Haissaguerre, et al. Short QT syndrome: clinical findings and diagnostic-therapeutic implications Eur. Heart J., October 2, 2006; 27(20): 2440 - 2447. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. Poglajen, M. Fister, B. Radovancevic, and B. Vrtovec Short QT Interval and Atrial Fibrillation in Patients Without Structural Heart Disease J. Am. Coll. Cardiol., May 2, 2006; 47(9): 1905 - 1907. [Full Text] [PDF]
|
|
|
|
 |
|
 H. M. Piper and E. A. Martinson Cardiovascular Research speeds up-Even more Cardiovasc Res, March 1, 2006; 69(4): 773 - 776. [Full Text] [PDF]
|
|
|
|
|
|
C. R. Bezzina, A. A.M. Wilde, and D. M. Roden The molecular genetics of arrhythmias Cardiovasc Res, August 15, 2005; 67(3): 343 - 346. [Full Text] [PDF]
|
|