| Peer-Reviewed

An Autopsic Examination Case of Diagnosed Brugada Syndrome

Received: 17 July 2014     Accepted: 30 July 2014     Published: 10 August 2014
Views:       Downloads:
Abstract

Brugada syndrome is a cardiac disorder characterized by typical ECG alterations, and it is associated with a high risk for sudden cardiac death, affecting young subjects with structurally normal hearts. The prevalence of this disorder is still uncertain, presenting marked geographical differences. The syndrome has a genetic basis, and several mutations have been identified in genes encoding subunits of cardiac sodium, potassium, and calcium channels, as well as in genes involved in the trafficking or regulation of these channels. We experienced an autopsy case of the sudden death by diagnosed Brugada syndrome. We present the case report and autopsic findings.

Published in American Journal of Internal Medicine (Volume 2, Issue 4)
DOI 10.11648/j.ajim.20140204.15
Page(s) 79-82
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2014. Published by Science Publishing Group

Keywords

Brugada Syndrome, Sudden Death, Coved and Saddleback Type ST Elevation, Autopsy, Histological Findings

References
[1] Brugada P, Brugada J. Right bundle branch block, persistent ST seg- ment elevation and sudden cardiac death: a distinct clinical and elec- trocardiographic syndrome. A multicenter report. J Am Coll Cardiol. 1992;20: 1391–1396.
[2] Wilde AA, Antzelevitch C, Borggrefe M, Brugada J, Brugada R, Brugada P, Corrado D, Hauer RN, Kass RS, Nademanee K, Priori SG, Towbin JA. Proposed diagnostic criteria for the Brugada syndrome: consensus report. Circulation. 2002; 106: 2514–2519.
[3] Osher HL, Wolff L. Electrocardiographic pattern simulating acute myo- cardial injury. Am J Med Sci. 1953; 226:541–545.
[4] Edeiken J. Elevation of the RS-T segment, apparent or real, in the right precordial leads as a probable normal variant. Am Heart J. 1954; 48:331–339.
[5] Martini B, Nava A, Thiene G, Buja GF, Canciani B, Scognamiglio R, Daliento L, Dalla VS. Ventricular fibrillation without apparent heart dis- ease: description of six cases. Am Heart J. 1989;118:1203–1209.
[6] Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, et al. Brugada syndrome: Report of the second consensus conference: Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 2005; 111: 659 – 670.
[7] Nademanee K, Veerakul G, Nimmannit S, Chaowakul V, Bhuripanyo K, Likittanasombat K, et al. Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men. Circulation 1997; 96: 2595 – 2600.
[8] Probst V, Denjoy I, Meregalli PG, Amirault JC, Sacher F, Mansourati J, et al. Clinical aspects and prognosis of Brugada syndrome in children. Circulation 2007; 115: 2042 – 2048.
[9] Benito B, Sarkozy A, Mont L, Henkens S, Berruezo A, Tamborero D, et al. Gender differences in clinical manifestations of Brugada syndrome. J Am Coll Cardiol 2008; 52: 1567 – 1573.
[10] Miyasaka Y, Tsuji H, Yamada K, Tokunaga S, Saito D, Imuro Y, et al. Prevalence and mortality of the Brugada-type electrocardio- gram in one city in Japan. J Am Coll Cardiol 2001; 38: 771 – 774.
[11] Mizusawa Y, Wilde A. Brugada syndrome. Circ Arrhythm Electro- physiol 2012; 5: 606 – 616.
[12] Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P. et al. Genetic basis and molecular mechanism for idiopathic ven-
tricular fibrillation. Nature 1998; 392: 293 – 296.
[13] Priori SG, Napolitano C, Giordano U, Collisani G, Memmi M.
Brugada syndrome and sudden cardiac death in children. Lancet 2000; 355: 808 – 809.
[14] Valdivia CR, Tester DJ, Rok BA, Porter CB, Munger TM, Jahangir
A, et al. A trafficking defective, Brugada syndrome-causing SCN5A. mutation rescued by drugs. Cardiovasc Res 2004; 62: 53 – 62.
[15] Kyndt F, Probst V, Potet F, Demolombe S, Chevallier JC, Baro I,
et al. Novel SCN5A mutation leading either to isolated cardiac. conduction defect or Brugada syndrome in a large French family. Circulation 2001; 104: 3081 – 3086.
[16] Bezzina C, Veldkamp MW, van den Berg MP, Postma AV, Rook
MB, Viersma JW, et al. A single Na(+) channel mutation causing. 
both long-QT and Brugada syndromes. Circ Res 1999; 85: 1206 –
1213.
[17] Dumaine R, Towbin JA, Brugada P, Vatta M, Nesterenko DV, Nesterenko VV, et al. Ionic mechanisms responsible for the elec- trocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res 1999; 85: 803 – 809.
[18] Akai J, Makita N, Sakurada H, Shirai N, Ueda K, Kitabatake A, et
al. A novel SCN5A mutation associated with idiopathic ventricular. fibrillation without typical ECG findings of Brugada syndrome.
FEBS Lett 2000; 479: 29 – 34.
[19] Amin AS, Verkerk AO, Bhuiyan ZA, Wilde AA, Tan HL. Novel. Brugada syndrome-causing mutation in ion-conducting pore of
cardiac Na+ channel does not affect ion selectivity properties. Acta
Physiol Scand 2005; 185: 291 – 301.
[20] Lei M, Huang CL, Zhang Y. Genetic Na+ channelopathies and sinus node dysfunction. Prog Biophys Mol Biol 2008; 98: 171 – 178.
[21] Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, et al.
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995; 80: 805 – 811.
[22] Tan HL, Bink-Boelkens MT, Bezzina CR, Viswnathan PC, Beaufort-
Krol GC, van Tintelen PJ, et al. A sodium-channel mutation causes
isolated cardiac conduction disease. Nature 2001; 409: 1043 – 1047.
[23] Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper
MJ, et al. Congenital sick sinus syndrome caused by recessive muta-
tions in the cardiac sodium channel gene (SCN5A). J Clin Invest
2003; 112: 1019 – 1028.
[24] Darbar D, Kannankeril PJ, Donahue BS, Kucera G, Stubblefield T, Haines JL, et al. Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation 2008; 117: 1927 – 1935.
[25] Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron
KJ, et al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 2005, 293: 447 – 454.
Cite This Article
  • APA Style

    Satoshi Furukawa, Satomu Morita, Hayato Okunaga, Lisa Wingenfeld, Akari Takaya, et al. (2014). An Autopsic Examination Case of Diagnosed Brugada Syndrome. American Journal of Internal Medicine, 2(4), 79-82. https://doi.org/10.11648/j.ajim.20140204.15

    Copy | Download

    ACS Style

    Satoshi Furukawa; Satomu Morita; Hayato Okunaga; Lisa Wingenfeld; Akari Takaya, et al. An Autopsic Examination Case of Diagnosed Brugada Syndrome. Am. J. Intern. Med. 2014, 2(4), 79-82. doi: 10.11648/j.ajim.20140204.15

    Copy | Download

    AMA Style

    Satoshi Furukawa, Satomu Morita, Hayato Okunaga, Lisa Wingenfeld, Akari Takaya, et al. An Autopsic Examination Case of Diagnosed Brugada Syndrome. Am J Intern Med. 2014;2(4):79-82. doi: 10.11648/j.ajim.20140204.15

    Copy | Download

  • @article{10.11648/j.ajim.20140204.15,
      author = {Satoshi Furukawa and Satomu Morita and Hayato Okunaga and Lisa Wingenfeld and Akari Takaya and Tokiko Nakagawa and Ikuo Sakaguchi and Yoshio Yamamoto and Takasi Ashihara and Minoru Horie and Katsuji Nishi and Masahito Hitosugi},
      title = {An Autopsic Examination Case of Diagnosed Brugada Syndrome},
      journal = {American Journal of Internal Medicine},
      volume = {2},
      number = {4},
      pages = {79-82},
      doi = {10.11648/j.ajim.20140204.15},
      url = {https://doi.org/10.11648/j.ajim.20140204.15},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajim.20140204.15},
      abstract = {Brugada syndrome is a cardiac disorder characterized by typical ECG alterations, and it is associated with a high risk for sudden cardiac death, affecting young subjects with structurally normal hearts. The prevalence of this disorder is still uncertain, presenting marked geographical differences. The syndrome has a genetic basis, and several mutations have been identified in genes encoding subunits of cardiac sodium, potassium, and calcium channels, as well as in genes involved in the trafficking or regulation of these channels. We experienced an autopsy case of the sudden death by diagnosed Brugada syndrome. We present the case report and autopsic findings.},
     year = {2014}
    }
    

    Copy | Download

  • TY  - JOUR
    T1  - An Autopsic Examination Case of Diagnosed Brugada Syndrome
    AU  - Satoshi Furukawa
    AU  - Satomu Morita
    AU  - Hayato Okunaga
    AU  - Lisa Wingenfeld
    AU  - Akari Takaya
    AU  - Tokiko Nakagawa
    AU  - Ikuo Sakaguchi
    AU  - Yoshio Yamamoto
    AU  - Takasi Ashihara
    AU  - Minoru Horie
    AU  - Katsuji Nishi
    AU  - Masahito Hitosugi
    Y1  - 2014/08/10
    PY  - 2014
    N1  - https://doi.org/10.11648/j.ajim.20140204.15
    DO  - 10.11648/j.ajim.20140204.15
    T2  - American Journal of Internal Medicine
    JF  - American Journal of Internal Medicine
    JO  - American Journal of Internal Medicine
    SP  - 79
    EP  - 82
    PB  - Science Publishing Group
    SN  - 2330-4324
    UR  - https://doi.org/10.11648/j.ajim.20140204.15
    AB  - Brugada syndrome is a cardiac disorder characterized by typical ECG alterations, and it is associated with a high risk for sudden cardiac death, affecting young subjects with structurally normal hearts. The prevalence of this disorder is still uncertain, presenting marked geographical differences. The syndrome has a genetic basis, and several mutations have been identified in genes encoding subunits of cardiac sodium, potassium, and calcium channels, as well as in genes involved in the trafficking or regulation of these channels. We experienced an autopsy case of the sudden death by diagnosed Brugada syndrome. We present the case report and autopsic findings.
    VL  - 2
    IS  - 4
    ER  - 

    Copy | Download

Author Information
  • Department of Legal Medicine, Shiga University of Medical Science, Shiga, Japan

  • Department of Legal Medicine, Shiga University of Medical Science, Shiga, Japan

  • Department of Legal Medicine, Shiga University of Medical Science, Shiga, Japan

  • Department of Legal Medicine, Shiga University of Medical Science, Shiga, Japan

  • Department of Legal Medicine, Shiga University of Medical Science, Shiga, Japan

  • Department of Legal Medicine, Shiga University of Medical Science, Shiga, Japan

  • Department of Legal Medicine, Shiga University of Medical Science, Shiga, Japan

  • Iga Research Institute of Mie University, Mie, Japan

  • Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Shiga, Japan

  • Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Shiga, Japan

  • Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Shiga, Japan

  • Department of Legal Medicine, Shiga University of Medical Science, Shiga, Japan

  • Sections