Brugada syndrome genetic testing: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Brugada syndrome}} | {{Brugada syndrome}} | ||
{{CMG}} | {{CMG}} {{AE}} {{S.G.}} | ||
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==Overview== | ==Overview== | ||
Despite the association of the Brugada syndrome with the [[SCN5A]] genotype | 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== | |||
[[Genetics|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 [[Genetics|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== | ||
Latest revision as of 17:15, 9 January 2020
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Brugada syndrome Microchapters |
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Brugada syndrome genetic testing On the Web |
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American Roentgen Ray Society Images of Brugada syndrome genetic testing |
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Risk calculators and risk factors for 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
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