Down the rabbit hole: deciphering the short QT syndrome.

@article{Verkerk2019DownTR,
  title={Down the rabbit hole: deciphering the short QT syndrome.},
  author={Arie O. Verkerk and Carol Ann Remme},
  journal={European heart journal},
  year={2019},
  volume={40 10},
  pages={
          854-856
        }
}
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… 
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References

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Sudden Death Associated With Short-QT Syndrome Linked to Mutations in HERG
TLDR
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).
TLDR
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
TLDR
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
TLDR
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.
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TLDR
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.
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TLDR
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TLDR
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TLDR
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.
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