Short QT syndrome [9 genes]

Short QT syndrome is a very rare genetic entity generally caused by an increase in function in some cardiac ion channels, which leads to an abnormal shortening of cardiac repolarization. It is associated with a high predisposition to ventricular arrhythmias, and patients may present syncope, cardiac arrest or sudden death. As in the case of long QT syndrome, these can be the first manifestations of the disease and can occur at any age.

The estimated prevalence in the adult population is 0.02%-0.1%, and has not been defined in the pediatric population.

The genetic study in short QT syndrome is part of the diagnostic criteria because it provides etiological confirmation, while allowing a more precise study of family members and a better family genetic counseling.

Genetic study is indicated in patients diagnosed with short QT syndrome, with level I evidence according to the main international clinical recommendation guidelines.
It is indicated in:

  • Patients with a diagnosis of QTc <330 ms.
  • Patients with QTc between 340-360 ms and who also present:
    • Family history of short QT syndrome
    • Having survived an episode of VT/VF (Ventricular Tachycardia/Ventricular Fibrillation) in the absence of structural heart disease.

The yield of the genetic study in short QT syndrome ranges between 20% and 25%.

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Short QT syndrome

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Techniques: Exome, NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-201906401

Short QT syndrome: View panel

This panel includes genes with a proven association with short QT syndrome and those for which the evidence is somewhat weaker.

  • KCNH2
  • KCNJ2
  • KCNQ1
  • SLC22A5
  • CACNA1C
  • CACNA2D1
  • CACNB2
  • CACNA1D*
  • TMEM175*

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Arrhythmias and sudden death without structural cardiopathy general panel [100 genes]

Panel that include short QT syndrome genes

Cardiomyopathies, arrhythmias and sudden death general panel [288 genes]

Panel that include short QT syndrome genes

References

  1. Wilde AAM et al. Expert Consensus Statement on the state of genetic testing for cardiac diseases. Europace. 2022 Sep 1;24(8):1307-1367. doi: 10.1093/europace/euac030. Erratum in: Europace. 2022 Aug 30;: PMID: 35373836; PMCID: PMC9435643.
  2. Zeppenfeld K et al . 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J. 2022 Oct 21;43(40):3997-4126. doi: 10.1093/eurheartj/ehac262. PMID: 36017572.