Cor Vasa 2013, 55(6):e525-e532 | DOI: 10.1016/j.crvasa.2013.09.003

What is new in Brugada syndrome?

Ondřej Bolek*, Dan Marek, Miloš Táborský
I. interní klinika - kardiologie, Lékařská fakulta Univerzity Palackého a Fakultní nemocnice Olomouc, Olomouc, Česká republika

The Brugada syndrome (BrS) and the long QT syndrome are the most frequently diagnosed genetically-conditioned arrhythmogenic syndromes. It is a primary disorder of electric cardiac activity which is demonstrated by elevation of the ST segment in the right precordial leads connected to an increased risk of sudden death in patients without a structural damage of the heart. In this article, an overview of genetic heterogeneity, pathophysiology, ECG diagnostics and therapy possibilities are discussed, including the innovations of the recent years. A brief case report of a patient presenting with syncope and ST segment elevation is described.

Keywords: Arrhythmia; Brugada syndrome; Channelopathies; ST-segment elevation; Sudden cardiac death

Received: February 28, 2013; Revised: September 11, 2013; Accepted: September 16, 2013; Published: December 1, 2013  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Bolek O, Marek D, Táborský M. What is new in Brugada syndrome? Cor Vasa. 2013;55(6):e525-532. doi: 10.1016/j.crvasa.2013.09.003.
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    1. K. Nademanee, G. Veerakul, S. Nimmannit, et al., Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men, Circulation 96 (1997) 2595-2600. Go to original source... Go to PubMed...
    2. M. Vatta, R. Dumaine, G. Varghese, et al., Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome, Human Molecular Genetics 11 (2002) 337-345. Go to original source... Go to PubMed...
    3. B. Martini, A. Nava, G. Thiene, et al., Ventricular fibrillation without apparent heart disease: description of six cases, American Heart Journal 118 (1989) 1203-1209. Go to original source... Go to PubMed...
    4. P. Brugada, J. Brugada, Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report, Journal of the American College of Cardiology 20 (1992) 1391-1396. Go to original source... Go to PubMed...
    5. J. Brugada, P. Brugada, R. Brugada, The syndrome of right bundle branch block ST segment elevation in V1 to V3 and sudden death-the Brugada syndrome, Europace 1 (1999) 156-166. Go to original source... Go to PubMed...
    6. C. Antzelevitch, P. Brugada, M. Borggrefe, et al., Brugada syndrome: report of the second consensus conference, Circulation 111 (2005) 659-670, [Erratum: Circulation 112 (2005) e74]. Go to original source... Go to PubMed...
    7. Y. Miyasaka, H. Tsuji, K. Yamada, et al., Prevalence and mortality of the Brugada-type electrocardiogram in one city in Japan, Journal of the American College of Cardiology 38 (2001) 771-774. Go to original source... Go to PubMed...
    8. F. Potet, P. Mabo, G. Le Coq, et al., Novel Brugada SCN5A mutation leading to ST-segment elevation in the inferior or the right precordial leads, Journal of Cardiovascular Electrophysiology 14 (2003) 200-203. Go to original source...
    9. M. Chaturvedi, A. Pandey, A. Patel, et al., Brugada syndrome revisited, Journal of Indian Academy of Clinical Medicine 12 (2011) 28-31.
    10. P.G. Meregalli, A.A. Wilde, H.L. Tan, Pathophysiological mechanisms of Brugada syndrome: depolarisation disorder, repolarisation disorder, or more?, Cardiovascular Research 67 (3) (2005) 367-378. Go to original source... Go to PubMed...
    11. C. Antzelevitch, Late potentials and the Brugada syndrome, Journal of the American College of Cardiology 39 (2002) 1996-1999, http://medind.nic.in/jac/t11/i1/jact11i1p28.pdf Go to original source... Go to PubMed...
    12. P.L. Hedley, P. Jorgensen, S. Schlamowitz, et al., Brugada syndrome, Human Mutation 30 (2009) 1256-1266. Go to original source... Go to PubMed...
    13. R. Brugada, O. Campuzano, P. Brugada, et al., Brugada Syndrome. GeneReviews™ Seattle (WA): University of Washington, Seattle; 1993-2005 Mar 31 [updated 2012 Aug 16]. PMID: 20301690 Overview of Brugada Syndrome Genetic Testing. www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene∂=brugada Go to original source...
    14. C. Antzelevitch, Genetic basis of Brugada syndrome, Heart Rhythm 4 (2007) 756-757. Go to original source... Go to PubMed...
    15. T. Ishikawa, A. Sato, Ch.A. Marcou, et al., A novel disease gene for Brugada syndrome sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5, Circulation: Arrhythmia and Electrophysiology 5 (2012) 1098-1107. Go to original source... Go to PubMed...
    16. F. Brette, C. Orchard, T-tubule function in mammalian cardiac myocytes, Circulation Research 92 (2003) 1182-1192. Go to original source... Go to PubMed...
    17. S.G. Priori, C. Napolitano, N. Tiso, et al., Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia, Circulation 103 (2001) 196-200. Go to original source...
    18. N. Tiso, D.A. Stephan, A. Nava, et al., Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2), Human Molecular Genetics 10 (2001) 189-194. Go to original source... Go to PubMed...
    19. H. Lahat, E. Pras, T. Olender, et al., A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel, American Journal of Human Genetics 69 (2001) 1378-1384. Go to original source... Go to PubMed...
    20. H. Liu, S. Chatel, C. Simard, et al., Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel, PLoS ONE 8 (1) (2013) e54131. Go to original source... Go to PubMed...
    21. O. Campuzano, C. Allegue, A. Iglesias, R. Brugada, Genetic basis of Brugada syndrome, Journal of Genetic Syndromes & Gene Therapy 4 (2013) 167. Go to original source...
    22. B. Stallmeyer, S. Zumhagen, I. Denjoy, et al., Mutational spectrum in the Ca(2+)-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances. Human Mutation 33 (1) (2012) 109-117. Go to original source... Go to PubMed...
    23. B. Nilius, G. Owsianik, The transient receptor potential family of ion channels, Genome Biology 12 (2011) 218. Go to original source... Go to PubMed...
    24. I. Mathar, R. Vennekens, M. Meissner, et al., Increased catecholamine secretion contributes to hypertension in TRPM4-deficient mice, Journal of Clinical Investigation 120 (2010) 3267-3279. Go to original source... Go to PubMed...
    25. www.brugada.org/about/disease-diagnosis.html
    26. K. Jeevaratnam, R. Rewbury, Y. Zhang, et al., Frequency distribution analysis of activation times and regional fibrosis in murine Scn5a(+/-) hearts: The effects of ageing and sex, Mechanisms of Ageing and Development 133 (2012) 591-599. Go to original source... Go to PubMed...
    27. S.G. Priori, C. Napolitano, M. Gasparini, et al., Natural history of Brugada syndrome: insights for risk stratification and management, Circulation 105 (2002) 1342-1347. Go to original source...
    28. P. Chockalingam, S.A. Clur, J.M. Breur, The diagnostic and therapeutic aspects of loss-of-function cardiac sodium channelopathies in children, Heart Rhythm 9 (2012) 1986-1992. Go to original source... Go to PubMed...
    29. S. Krištofová, K. Dvořák, Brugadův syndrom jako příčina náhlého úmrtí, Intervenční a akutní kardiologie 3 (2004) 79-82.
    30. B. Belhassen, A. Glick, S. Viskin, et al., Efficacy of quinidine in high-risk patients with Brugada syndrome, Circulation 110 (2004) 1731-1737. Go to original source... Go to PubMed...
    31. P.G. Postema, C. Wolpert, A.S. Amin, et al., Drugs and Brugada syndrome patients: Review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org), Heart Rhythm 6 (2009) 1335-1341. Go to original source... Go to PubMed...
    32. S.G. Priori, M. Gasparini, C. Napolitano, et al., Risk Stratification in Brugada Syndrome: Results of the PRELUDE (PRogrammed ELectrical stimUlation preDictive valuE) Registry, Journal of the American College of Cardiology 59 (1) (2012) 37-45. Go to original source... Go to PubMed...

    Return to the content


    Cor et Vasa

    You are accessing a site intended for medical professionals, not the lay public. The site may also contain information that is intended only for persons authorized to prescribe and dispense medicinal products for human use.

    I therefore confirm that I am a healthcare professional under Act 40/1995 Coll. as amended by later regulations and that I have read the definition of a healthcare professional.


    No
    Yes