Advanced search
Publication Cover
Biomarkers in Medicine Volume 7, 2013 - Issue 4
Submit an article Journal homepage
191
Views
1
CrossRef citations to date
0
Altmetric
Review

Genetic Biomarkers in Brugada Syndrome

Anthony Li1 Cardiovascular Sciences Research Centre, St George‘s University of London,Cranmer Terrace,London,SW17 0RE,UKView further author information
,
Magdi M Saba1 Cardiovascular Sciences Research Centre, St George‘s University of London,Cranmer Terrace,London,SW17 0RE,UKView further author information
&
Elijah R Behr1 Cardiovascular Sciences Research Centre, St George‘s University of London,Cranmer Terrace,London,SW17 0RE,UKCorrespondence[email protected]
View further author information
Pages 535-546 | Published online: 02 Aug 2013

References

  • Brugada P , BrugadaJ. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J. Am. Coll. Cardiol.20(6), 1391–1396 (1992).
  • Vatta M , DumaineR, VargheseGet al. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum. Mol. Genet. 11(3), 337–345 (2002).
  • Behr ER , DalageorgouC, ChristiansenMet al. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur. Heart J. 29(13), 1670–1680 (2008).
  • Raju H , PapadakisM, GovindanMet al. Low prevalence of risk markers in cases of sudden death due to Brugada syndrome relevance to risk stratification in Brugada syndrome. J. Am. Coll. Cardiol. 57(23), 2340–2345 (2011).
  • Chen Q , KirschGE, ZhangDet al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 392(6673), 293–296 (1998).
  • Li A , BehrER. Brugada syndrome: an update. Future Cardiol.9(2), 253–271 (2013).
  • Antzelevitch C , BrugadaP, BorggrefeMet al. Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 111(5), 659–670 (2005).
  • Anselm DD , BaranchukA. Brugada phenocopy: redefinition and updated classification. Am. J. Cardiol.111(3), 453 (2013).
  • Yap YG , BehrER, CammAJ. Drug-induced Brugada syndrome. Europace11(8), 989–994 (2009).
  • Sarkozy A , PaparellaG, BoussyTet al. The usefulness of the consensus clinical diagnostic criteria in Brugada syndrome. Int. J. Cardiol. doi:10.1016/j.ijcard.2012.06.115 (2012) (Epub ahead of print).
  • Probst V , VeltmannC, EckardtLet al. Long-term prognosis of patients diagnosed with Brugada syndrome: results from the FINGER Brugada syndrome registry. Circulation 121(5), 635–643 (2010).
  • Crotti L , MarcouCA, TesterDJet al. Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J. Am. Coll. Cardiol. 60(15), 1410–1418 (2012).
  • Richter S , SarkozyA, PaparellaGet al. Number of electrocardiogram leads displaying the diagnostic coved-type pattern in Brugada syndrome: a diagnostic consensus criterion to be revised. Eur. Heart J. 31(11), 1357–1364 (2010).
  • Govindan M , BatchvarovVN, RajuHet al. Utility of high and standard right precordial leads during ajmaline testing for the diagnosis of Brugada syndrome. Heart 96(23), 1904–1908 (2010).
  • Yan GX , AntzelevitchC. Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation. Circulation100(15), 1660–1666 (1999).
  • Meregalli PG , WildeAA, TanHL. Pathophysiological mechanisms of Brugada syndrome: depolarization disorder, repolarization disorder, or more?Cardiovasc. Res.67(3), 367–378 (2005).
  • Antzelevitch C . The Brugada syndrome: ionic basis and arrhythmia mechanisms. J. Cardiovasc. Electrophysiol.12(2), 268–272 (2001).
  • Hoogendijk MG , OpthofT, PostemaPG, WildeAA, de BakkerJMT, CoronelR. The Brugada ECG pattern: a marker of channelopathy, structural heart disease, or neither? Toward a unifying mechanism of the Brugada syndrome. Circ. Arrhythm. Electrophysiol. 3(3), 283–290 (2010).
  • Priori SG , NapolitanoC, GaspariniMet al. Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: a prospective evaluation of 52 families. Circulation 102(20), 2509–2515 (2000).
  • Pfahnl AE , ViswanathanPC, WeissRet al. A sodium channel pore mutation causing Brugada syndrome. Heart Rhythm 4(1), 46–53 (2007).
  • London B , MichalecM, MehdiHet al. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation 116(20), 2260–2268 (2007).
  • Weiss R . Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. Circulation105(6), 707–713 (2001).
  • Antzelevitch C , PollevickGD, CordeiroJMet al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation 115(4), 442–449 (2007).
  • Makiyama T , AkaoM, HarunaYet al. Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome. Circ. J. 72(10), 1705–1706 (2008).
  • Makita N , BehrE, ShimizuWet al. The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J. Clin. Invest. 118(6), 2219–2229 (2008).
  • Smits JPP , KoopmannTT, WildersRet al. A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J. Mol. Cell. Cardiol. 38(6), 969–981 (2005).
  • Tan HL , Bink-BoelkensMT, BezzinaCRet al. A sodium-channel mutation causes isolated cardiac conduction disease. Nature 409(6823), 1043–1047 (2001).
  • Benson DW , WangDW, DymentMet al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J. Clin. Invest. 112(7), 1019–1028 (2003).
  • Darbar D , KannankerilPJ, DonahueBSet al. Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation 117(15), 1927–1935 (2008).
  • Ishikawa T , SatoA, MarcouCAet al. A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5. Circ. Arrhythm. Electrophysiol. 5(6), 1098–1107 (2012).
  • Liu H , ChatelS, SimardCet al. Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel. PLoS ONE 8(1), e54131 (2013).
  • Kattygnarath D , MaugenreS, NeyroudNet al. MOG1: a new susceptibility gene for Brugada syndrome. Circ. Cardiovasc. Genet.4(3), 261–268 (2011).
  • Kapplinger JD , LandstromAP, SalisburyBAet al. Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J. Am. Coll. Cardiol 57(23), 2317–2327 (2011).
  • Holst AG , SaberS, HoushmandMet al. Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics. Can. J. Cardiol. 28(2), 196–200 (2012).
  • Risgaard B , JabbariR, RefsgaardLet al. High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin. Genet. doi:10.1111/cge.12126. (2013) (Epub ahead of print).
  • Tan BH , ValdiviaCR, RokBAet al. Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm 2(7), 741–747 (2005).
  • Baroudi G , CarbonneauE, PouliotV, ChahineM. SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells. FEBS Lett.467(1), 12–16 (2000).
  • Probst V , WildeAAM, BarcJet al. SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ. Cardiovasc. Genet.2(6), 552–557 (2009).
  • Giudicessi JR , AckermanMJ. Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes. Transl. Res.161(1), 1–14 (2013).
  • Gellens ME . Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc. Natl Acad. Sci. USA89(2), 554–558 (1992).
  • Clatot J , Ziyadeh-IsleemA, MaugenreSet al. Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits. Cardiovasc. Res. 96(1), 53–63 (2012).
  • Kapplinger JD , TesterDJ, AldersMet al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 7(1), 33–46 (2010).
  • Ackerman MJ , PrioriSG, WillemsSet al. 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), 1308–1339 (2011).
  • Gollob MH , BlierL, BrugadaRet al. Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. Can. J. Cardiol. 27(2), 232–245 (2011).
  • Paul M , GerssJ, Schulze-BahrEet al. Role of programmed ventricular stimulation in patients with Brugada syndrome: a meta-analysis of worldwide published data. Eur. Heart J. 28(17), 2126–2133 (2007).
  • Priori SG , GaspariniM, NapolitanoCet al. Risk stratification in Brugada syndrome results of the PRELUDE (programmed electrical stimulation predictive value) Registry. J. Am. Coll. Cardiol. 59(1), 37–45 (2012).
  • Sarkozy A , SorgenteA, BoussyTet al. The value of a family history of sudden death in patients with diagnostic type I Brugada ECG pattern. Eur. Heart J. 32(17), 2153–2160 (2011).
  • Gehi AK , DuongTD, MetzLD, GomesJA, MehtaD. Risk stratification of individuals with the Brugada electrocardiogram: a meta-analysis. J. Cardiovasc. Electrophysiol.17(6), 577–583 (2006).
  • Nishii N , OgawaM, MoritaHet al. SCN5A mutation is associated with early and frequent recurrence of ventricular fibrillation in patients with Brugada syndrome. Circ. J.74(12), 2572–2578 (2010).
  • Meregalli PG , TanHL, ProbstVet al. Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm 6(3), 341–348 (2009).
  • Smits JP , EckardtL, ProbstVet al. Genotype–phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J. Am. Coll. Cardiol. 40(2), 350–356 (2002).
  • Hong K , BrugadaJ, OlivaAet al. Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. Circulation 110(19), 3023–3027 (2004).
  • Santos LF , RodriguesB, MoreiraDet al. Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome. Europace 14(6), 882–888 (2012).
  • Probst V , AllouisM, SacherFet al. Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation. J. Cardiovasc. Electrophysiol. 17(3), 270–275 (2006).
  • Makiyama T , AkaoM, TsujiKet al. High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. J. Am. Coll. Cardiol. 46(11), 2100–2106 (2005).
  • Nagy SZ , ChanCF. Brugada syndrome unmasked by febrile illness in a previously healthy male patient with history of syncope. Heart98(21), 1610 (2012).
  • Junttila MJ , GonzalezM, LizotteEet al. Induced Brugada-type electrocardiogram, a sign for imminent malignant arrhythmias. Circulation 117(14), 1890–1893 (2008).
  • Dumaine R , TowbinJA, BrugadaPet al. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ. Res. 85(9), 803–809 (1999).
  • Keller DI , HuangH, ZhaoJet al. A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation. Cardiovasc. Res. 70(3), 521–529 (2006).
  • Samani K , WuG, AiTet al. A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness. Heart Rhythm 6(9), 1318–1326 (2009).
  • Poelzing S , ForleoC, SamodellMet al. SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation114(5), 368–376 (2006).
  • Lizotte E , JunttilaMJ, DubeMPet al. Genetic modulation of Brugada syndrome by a common polymorphism. J. Cardiovasc. Electrophysiol. 20(10), 1137–1141 (2009).
  • Bezzina CR , ShimizuW, YangPet al. Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction. Circulation 113(3), 338–344 (2006).
  • Sommariva E , PapponeC, Martinelli BoneschiFet al. Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification. Eur. J. Hum. Genet. doi:10.1038/ejhg.2012.289 (2013) (Epub ahead of print).
  • Frustaci A , PrioriSG, PieroniMet al. Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. Circulation 112(24), 3680–3687 (2005).
  • Catalano O , AntonaciS, MoroGet al. Magnetic resonance investigations in Brugada syndrome reveal unexpectedly high rate of structural abnormalities. Eur. Heart J. 30(18), 2241–2248 (2009).
  • Coronel R , CasiniS, KoopmannTTet al. Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study. Circulation 112(18), 2769–2777 (2005).
  • Hoogendijk MG . Diagnostic dilemmas: overlapping features of brugada syndrome and arrhythmogenic right ventricular cardiomyopathy. Front. Physiol.3, 144 (2012).
  • Olson TM , MichelsVV, BallewJDet al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 293(4), 447–454 (2005).
  • van H oorn F, Campian ME, Spijkerboer A et al.SCN5A mutations in Brugada syndrome are associated with increased cardiac dimensions and reduced contractility. PLoS ONE7(8), e42037 (2012).
  • Hermida JS , DenjoyI, ClercJet al. Hydroquinidine therapy in Brugada syndrome. J. Am. Coll. Cardiol. 43(10), 1853–1860 (2004).
  • Belhassen B , GlickA, ViskinS. Efficacy of quinidine in high-risk patients with Brugada syndrome. Circulation110(13), 1731–1737 (2004).
  • Mizusawa Y , SakuradaH, NishizakiM, HiraokaM. Effects of low-dose quinidine on ventricular tachyarrhythmias in patients with Brugada syndrome: low-dose quinidine therapy as an adjunctive treatment. J. Cardiovasc. Pharmacol.47(3), 359–364 (2006).
  • Valdivia CR , TesterDJ, RokBAet al. A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. Cardiovasc. Res. 62(1), 53–62 (2004).
  • Shinlapawittayatorn K , DudashLA, DuXXet al. A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations. Circ. Cardiovasc. Genet. 4(5), 500–509 (2011).
  • Teng S , GaoL, PaajanenV, PuJ, FanZ. Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels. Cardiovasc. Res.83(3), 473–480 (2009).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.