Short QT syndrome screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Sumanth Khadke, MD[2]
Overview
Short QT syndrome is an autosomal dominant inherited disease, and having a family member with the disease places an individual at risk for the disease. Family members of affected individuals should, therefore, be screened. New-onset lone atrial fibrillation may be a marker of the disease, and young patients with lone atrial fibrillation should be screened as well. Short QT syndrome should be excluded in patients without structural heart disease presenting with sudden cardiac death.
Screening
There is insufficient evidence to recommend routine screening for Short QT syndrome. In the year 2011, The Heart Rhythm Society and the European Heart Rhythm Association have produced an expert consensus statement on genetic testing of channelopathies including SQTS. They recommend genetic testing to be conducted by a cardiologist who has a strong clinical suspicion of SQTS based on history, physical examination, family history, and electrocardiographic findings (grade IIb). Mutation-specific genetic testing is recommended for family members and appropriate relatives following the identification of the SQTS-causative mutation in an index case (grade I)[1].New-onset lone atrial fibrillation may be a marker of the disease, and young patients with lone atrial fibrillation should be screened as well. Short QT syndrome should be excluded in patients without structural heart disease presenting with sudden cardiac death.
References
- ↑ Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H; et al. (2011). "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)". Heart Rhythm. 8 (8): 1308–39. doi:10.1016/j.hrthm.2011.05.020. PMID 21787999.