Brugada syndrome genetic testing: Difference between revisions
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==Overview== | ==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. | 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== | ==Other Diagnostic Studies== | ||
Genetic testing may be helpful in the diagnosis of Brugada syndrome. Findings suggestive of Brugada syndrome include:<ref name="NielsenHolst2013">{{cite journal|last1=Nielsen|first1=Morten W.|last2=Holst|first2=Anders G.|last3=Olesen|first3=Søren-Peter|last4=Olesen|first4=Morten S.|title=The genetic component of Brugada syndrome|journal=Frontiers in Physiology|volume=4|year=2013|issn=1664-042X|doi=10.3389/fphys.2013.00179}}</ref><ref name="LiYin2018">{{cite journal|last1=Li|first1=Wenjia|last2=Yin|first2=Lei|last3=Shen|first3=Cheng|last4=Hu|first4=Kai|last5=Ge|first5=Junbo|last6=Sun|first6=Aijun|title=SCN5A Variants: Association With Cardiac Disorders|journal=Frontiers in Physiology|volume=9|year=2018|issn=1664-042X|doi=10.3389/fphys.2018.01372}}</ref><ref name="WarringAnderson20172">{{cite journal|last1=Warring|first1=Simrit K.|last2=Anderson|first2=Heather N.|last3=Bos|first3=J. Martijn|last4=Ackerman|first4=Michael J.|title=Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification|journal=HeartRhythm Case Reports|volume=3|issue=10|year=2017|pages=450–454|issn=22140271|doi=10.1016/j.hrcr.2017.06.003}}</ref> | Genetic testing may be helpful in the diagnosis of Brugada syndrome. Findings suggestive of Brugada syndrome include:<ref name="NielsenHolst2013">{{cite journal|last1=Nielsen|first1=Morten W.|last2=Holst|first2=Anders G.|last3=Olesen|first3=Søren-Peter|last4=Olesen|first4=Morten S.|title=The genetic component of Brugada syndrome|journal=Frontiers in Physiology|volume=4|year=2013|issn=1664-042X|doi=10.3389/fphys.2013.00179}}</ref><ref name="LiYin2018">{{cite journal|last1=Li|first1=Wenjia|last2=Yin|first2=Lei|last3=Shen|first3=Cheng|last4=Hu|first4=Kai|last5=Ge|first5=Junbo|last6=Sun|first6=Aijun|title=SCN5A Variants: Association With Cardiac Disorders|journal=Frontiers in Physiology|volume=9|year=2018|issn=1664-042X|doi=10.3389/fphys.2018.01372}}</ref><ref name="WarringAnderson20172">{{cite journal|last1=Warring|first1=Simrit K.|last2=Anderson|first2=Heather N.|last3=Bos|first3=J. Martijn|last4=Ackerman|first4=Michael J.|title=Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification|journal=HeartRhythm Case Reports|volume=3|issue=10|year=2017|pages=450–454|issn=22140271|doi=10.1016/j.hrcr.2017.06.003}}</ref><ref name="pmid15898165">{{cite journal |author=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 |title=Brugada syndrome: report of the second consensus conference |journal=[[Heart Rhythm : the Official Journal of the Heart Rhythm Society]] |volume=2 |issue=4 |pages=429–40 |year=2005 |month=April |pmid=15898165 |doi= |url= |issn= |accessdate=2012-10-14}}</ref> | ||
*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. | *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== | ==References== |
Revision as of 15:08, 11 December 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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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
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