Down the rabbit hole: deciphering the short QT syndrome.

  title={Down the rabbit hole: deciphering the short QT syndrome.},
  author={Arie O. Verkerk and Carol Ann Remme},
  journal={European heart journal},
  volume={40 10},
The short QT syndrome (SQTS) is a relatively new player in the field of inherited arrhythmia syndromes. The syndrome was first described in the early 2000s, with affected individuals presenting with atrial fibrillation (AF), a short QT interval, and increased risk for sudden cardiac death (SCD). While clinical presentation was found to be heterogeneous, common features among SQTS patients include poor rate adaptation of the QT interval during exercise, shortened atrial and ventricular… 
1 Citations


Sudden Death Associated With Short-QT Syndrome Linked to Mutations in HERG
The genetic basis for a new clinical entity characterized by sudden death and short-QT intervals in the ECG is described and a novel genetic and biophysical mechanism responsible for sudden death in infants, children, and young adults caused by mutations in KCNH2 is demonstrated.
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6).
The first pathogenic mutation in the CACNA2D1 gene in humans, which causes a new variant of SQTS is reported, and it suggests that single channel biophysical properties of the L-type channel are altered by this variant.
Increased Vulnerability of Human Ventricle to Re-entrant Excitation in hERG-linked Variant 1 Short QT Syndrome
In SQT1 the N588K-hERG mutation facilitates initiation and maintenance of ventricular re-entry, increasing the lifespan of re-entrant spiral waves and the stability of scroll waves in 3D tissue.
Transgenic short-QT syndrome 1 rabbits mimic the human disease phenotype with QT/action potential duration shortening in the atria and ventricles and increased ventricular tachycardia/ventricular fibrillation inducibility
Diverse electrical remodelling was observed in SQT1, IK1 was decreased-partially reversing the phenotype-while a small increase in IKs may partly contribute to an accentuation of the phenotype, indicating their value for elucidation of arrhythmogenic mechanisms and identification of novel anti-arrhythmic strategies.
Electrocardiographic Transmural Dispersion of Repolarization in Patients with Inherited Short QT Syndrome
This work hypothesized that the TPE/QT ratio would be greater in SQTS patients than in control subjects, and evaluated this hypothesis to find that it was higher in patients with acquired long QT syndrome than in other patients.
Idiopathic Short QT Interval:A New Clinical Syndrome?
This report describes three members of one family demonstrating this ECG phenomenon, associated in the 17-year-old with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion, and considers the possible arrhythmogenic potential of the short QTI.
Biophysical Characterization of the Short QT Mutation hERG-N588K Reveals a Mixed Gain-and Loss-of-Function
It is suggested that the general view of HERG-N588K being a gain-of-function is modified to a mixed gain- and loss- of-function mutation, which might also have impact on the pathological picture of the HERGs ability to trigger arrhythmic events.
Arrhythmic potency of human ether-a-go-go-related gene mutations L532P and N588K in a computational model of human atrial myocytes.
  • A. Loewe, M. Wilhelms, F. Fischer, E. Scholz, O. Dössel, G. Seemann
  • Biology
    Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
  • 2014
Both mutations showed an increased arrhythmogenicity due to decreased refractory time in combination with a more linear repolarization phase as a basis for the improvement of therapeutic strategies.