Short QT syndrome


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Inclusion criteria

  • QTc interval of less than or equal to 330 ms,
  • OR QTc interval of less than 360 ms AND one or more of
    • Family history of SQTS
    • Family history of sudden death at age less than or equal to 40 years
    • Survival of otherwise unexplained episode of ventricular tachycardia/fibrillation.

(derived from: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Priori et al. Heart Rhythm 2013 Dec; 10(12): 1932-1963. doi: 10.1016/j.hrthm.2013.05.014.)

Exclusion criteria

Prior genetic testing guidance

– Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.

– Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • KCNH2, KCNQ1, KCNJ2

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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