brugada syndrome

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1、BrugadasyndrometianzhenBrugadaSyndromeisanECGabnormalitywithahighincidenceofsuddendeathinpatientswithstructurallynormalhearts.Itwasfirstdescribedin1992bytheBrugadabrothers.ThefirstsuchcasebroughttotheattentionoftheBrugadabrothersinvolvedathree-year-oldboyfromPolandwhopresented

2、in1986followingmultipleepisodesofsyncope.(晕厥)HisECGshowedST-segmentelevationlimitedtoleadsV1throughV3.HissisterdisplayedasimilarclinicalandECGprofileanddiedattwoyearsofage,despitecombinedtreatmentwithapacemakerandamiodarone.Sixsimilarcasescametotheirattentioninsucceedingyears,

3、andin1992,theyreportedtheseeightcasesasthebasisforanewanddistinctclinicalentity.ThefirstcaseTheBrugadasyndromeisageneticdiseasethatischaracterisedbyabnormalelectrocardiogram(ECG)findingsandanincreasedriskofsuddencardiacdeath.Itisthemajorcauseofsuddenunexplaineddeathsyndrome(SU

4、DS),andisthemostcommoncauseofsuddendeathinyoungmenwithoutknownunderlyingcardiacdiseaseinThailandandLaos.GeneticsandpathophysiologyApproximately20%ofthecasesofBrugadasyndromehavebeenshowntobeassociatedwithmutation(s)inthegenethatencodesforthesodiumionchannelinthecellmembranesof

5、themusclecellsoftheheart(themyocytes).Thegene,namedSCN5A,islocatedontheshortarmofthethirdchromosome(3p21).Loss-of-functionmutationsinthisgeneleadtoalossoftheactionpotentialdomeofsomeepicardialareasoftherightventricle.Thisresultsintransmuralandepicardialdispersionofrepolarizati

6、on.ThetransmuraldispersionunderliesST-segmentelevationandthedevelopmentofavulnerablewindowacrosstheventricularwall,whereastheepicardialdispersionofrepolarizationfacilitatesthedevelopmentofphase2reentry,whichgeneratesaphase2reentrantextrasystolethatcapturesthevulnerablewindowto

7、precipitateventriculartachycardiaand/orfibrillationthatoftenresultsinsuddencardiacdeath.Atpresenttimehowever,allthereportedpatientswhodiedbecauseofthediseaseandweresubmittedtodetailedautopsystudyhaveshownastructuralrightventricularpathologyunderlyingthesyndromeEpidemiologyInt

8、ernationalstatistics:InpartsofAsia(eg,thePhilippines,Thailand