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Cardiology

Presentation: Adult with short QT syndrome

The rare finding of a short QT interval on an adult patient’s electrocardiogram may have a genetic cause.

Example clinical scenario

A 30-year-old man presents to the emergency department with breathlessness, palpitations and a persistent feeling of impending doom. His admission electrocardiogram (ECG) shows atrial fibrillation with a ventricular rate of 163bpm. This is cardioverted using IV metoprolol. Later, he has multiple episodes of sustained ventricular tachycardia which require direct current cardioversion treatment. The resting ECG demonstrates sinus rhythm at 75bpm with a short QT interval (QTc = 328ms).

When to consider genomic testing

  • Genomic testing should be considered in patients with a firm clinical diagnosis of short QT syndrome (SQTS), as indicated by:
    • a QTc ≤330ms; or
    • a QTc <360ms and one or more of the following:
      • a family history of SQTS;
      • a family history of sudden death at ≤40 years of age; and/or
      • patient has survived a ventricular tachycardia or ventricular fibrillation episode in the absence of heart disease.
  • Genomic testing should be carried out in parallel with expert phenotypic assessment – for example, in an inherited cardiac conditions (ICC) clinic – with support from clinical genetics. Note that testing may occasionally be appropriate outside these criteria following discussion in an ICC multidisciplinary team meeting.
  • Referrals for genomic testing will be triaged by the genomic laboratory. Testing should be targeted at those in whom a genetic or genomic diagnosis will guide management for the proband and/or their family.
  • Testing should also be considered in first-degree relatives of a patient with confirmed SQTS whose condition is associated with an identified familial variant.

What do you need to do?

  • Consult the National Genomic Test Directory. From here you can access the rare and inherited disease eligibility criteria for information about individual tests and their associated eligibility criteria. You can also access a spreadsheet of all available tests.
  • For information on the genes that are included on different gene panels, see the NHS Genomic Medicine Service (GMS) Signed Off Panels Resource.
  • If eligibility criteria are met, discuss with/refer to your local ICC clinical service for genomic testing and family screening, including details of confirmation that the patient fulfils the criteria.
  • If the patient fulfils diagnostic criteria as detailed in other published guidelines, but these guidelines differ to the eligibility criteria in the test directory, it is appropriate to refer to an ICC clinic for further assessment.
  • The relevant clinical indication for adults with suspected SQTS is:
  • None of the tests outlined above use whole genome sequencing, so you should use your local Genomic Laboratory Hub test order form and consent (record of discussion) form.
  • Most tests are DNA based, and an EDTA sample (typically a purple-topped tube) is required. There are a few tests for which a different type of tube is used; see Samples for genomic testing in rare disease.
  • If you are discussing genomics concepts with your patients, you may find it helpful to use the visual communication aids for genomics conversations.
  • Information about patient eligibility and test indications was correct at the time of writing. When requesting a test, please refer to the National Genomic Test Directory to confirm the right test for your patient.

Resources

For clinicians

References:

For patients

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  • Last reviewed: 21/02/2026
  • Next review due: 21/02/2027
  • Authors: Dr Tobi Soge
  • Reviewers: Dr Rachel Bastiaenen, Dr Joanna Kennedy, Dr Catherine Mercer

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