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.

  • Patients with diagnosis of short QT syndrome (QTc <330 ms).
  • Patients under diagnostic suspicion of short QT syndrome (QTc <360 ms) who present any of the following characteristics: Personal or familial history of sudden death. History of syncope of unknown origin. Ventricular fibrillation of unknown origin.
  • Relatives of patients with genetic diagnosis of short QT syndrome.

The probability of detecting a pathogenic mutation when a patient has been diagnosed with short QT syndrome has not been clearly established, although it is estimated to be close to 25%.

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Short QT syndrome

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-201906401

Short QT syndrome: View panel

  • The panel includes those genes with proven association with this phenotype, with evidence gathered from the most relevant publications up to date.

  • 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.

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References

  • 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 SG et al. Heart Rhythm. 2013 Dec;10(12):1932-63.
  • HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Ackerman MJ, Priori SG, et al. Europace. 2011 Aug;13(8):1077-109