Brugada syndrome genetic testing

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sogand Goudarzi, MD [2]

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Overview

Despite the association of the Brugada syndrome with the SCN5A genotype. Genetic testing can be used to support the diagnosis of Brugada syndrome and to detect relatives at risk.

Other Diagnostic Studies

Genetic testing may be helpful in the diagnosis of Brugada syndrome. Findings suggestive of Brugada syndrome include:^[1]^[2]^[3]^[4]

Despite the association of the Brugada syndrome with the SCN5A genotype, there is unfortunately no association between the results of genetic testing and clinical prognosis.
Genetic testing can be used to support the diagnosis of Brugada syndrome and to detect relatives at risk.

References

↑ Nielsen, Morten W.; Holst, Anders G.; Olesen, Søren-Peter; Olesen, Morten S. (2013). “The genetic component of Brugada syndrome”. Frontiers in Physiology. 4. doi:10.3389/fphys.2013.00179. ISSN 1664-042X.
↑ Li, Wenjia; Yin, Lei; Shen, Cheng; Hu, Kai; Ge, Junbo; Sun, Aijun (2018). “SCN5A Variants: Association With Cardiac Disorders”. Frontiers in Physiology. 9. doi:10.3389/fphys.2018.01372. ISSN 1664-042X.
↑ Warring, Simrit K.; Anderson, Heather N.; Bos, J. Martijn; Ackerman, Michael J. (2017). “Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification”. HeartRhythm Case Reports. 3 (10): 450–454. doi:10.1016/j.hrcr.2017.06.003. ISSN 2214-0271.
↑ Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, LeMarec H, Nademanee K, Perez Riera AR, Shimizu W, Schulze-Bahr E, Tan H, Wilde A (2005). “Brugada syndrome: report of the second consensus conference”. Heart Rhythm : the Official Journal of the Heart Rhythm Society. 2 (4): 429–40. PMID 15898165. Unknown parameter |month= ignored (help); |access-date= requires |url= (help)

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[NielsenHolst2013-1] Nielsen, Morten W.; Holst, Anders G.; Olesen, Søren-Peter; Olesen, Morten S. (2013). “The genetic component of Brugada syndrome”. Frontiers in Physiology. 4. doi:10.3389/fphys.2013.00179. ISSN 1664-042X.

[LiYin2018-2] Li, Wenjia; Yin, Lei; Shen, Cheng; Hu, Kai; Ge, Junbo; Sun, Aijun (2018). “SCN5A Variants: Association With Cardiac Disorders”. Frontiers in Physiology. 9. doi:10.3389/fphys.2018.01372. ISSN 1664-042X.

[WarringAnderson20172-3] Warring, Simrit K.; Anderson, Heather N.; Bos, J. Martijn; Ackerman, Michael J. (2017). “Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification”. HeartRhythm Case Reports. 3 (10): 450–454. doi:10.1016/j.hrcr.2017.06.003. ISSN 2214-0271.

[pmid15898165-4] Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, LeMarec H, Nademanee K, Perez Riera AR, Shimizu W, Schulze-Bahr E, Tan H, Wilde A (2005). “Brugada syndrome: report of the second consensus conference”. Heart Rhythm : the Official Journal of the Heart Rhythm Society. 2 (4): 429–40. PMID 15898165. Unknown parameter |month= ignored (help); |access-date= requires |url= (help)

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