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Short QT Syndrome

Definition

SQTS is an heritable cardiac channelopathy characterized by brief QT intervals on the ECG with increased susceptibility to  ventricular arrhythmias and sudden cardiac death. The prevalence of SQTS is estimated in 1:3000. SQTS is a very rare and highly lethal condition. Following the HRS/EHRA/APHRS Expert Consensus statement the diagnosis of SQTS should be considered when QTc ≤330 ms or in individuals with QTc <360ms, who have at least one of the following additional criteria: a pathogenic mutation in known genes, family history of SQTS or of sudden death at age ≤40, survival of a VT/VF episode in the absence of other cardiac disease.

Why to perform genetic testing in cases with

  • To confirm the diagnosis
  • To better perform risk stratification
  • To adjust medical therapy
  • To detect family members at risk

Our SQTS test panel

CACNA1C, CACNB2, KCNE1, KCNH2, KCNJ2, KCNQ1, SLC4A3.

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from the genetic test in SQTS: The diagnostic yield of the test is 25%.

 

Recommended Literature

  • Diagnosis and management of short QT syndrome. Bjerregaard P. Heart Rhythm. 2018 Aug;15(8):1261-1267. doi: 10.1016/j.hrthm.2018.02.034.
  • Multiple clinical profiles of families with the short QT syndrome. Akdis, et al. Europace. 2018 Jun 1;20(FI1):f113-f121. doi: 10.1093/europace/eux186.
  • The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization.

 

Download here interesting open access manuscripts on genetics of SQTS