• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Genetic-based risk of sudden arrhythmic death in the Brugada syndrome

Research Project

Project/Area Number 24591086
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Circulatory organs internal medicine
Research InstitutionNational Cardiovascular Center Research Institute

Principal Investigator

AIBA Takeshi  独立行政法人国立循環器病研究センター, 病院, 医長 (40574348)

Co-Investigator(Kenkyū-buntansha) SHIMIZU Wataru  日本医科大学, 循環器内科, 教授 (50399606)
TAKAKI Hiroshi  国立循環器病研究センター, 研究所循環動態制御部, 室長 (80197053)
MATSUURA Hiroshi  滋賀医科大学, 医学部・細胞機能生理学, 教授 (60238962)
Project Period (FY) 2012-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2012: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
KeywordsBrugada syndrome / genetics / sudden death / electrophysiology / Na channels / ventricular fibrillation / 心室細動 / 突然死 / ブルガダ症候群 / 遺伝子 / イオンチャネル / ブルガダ症候群 / ナトリウム / 不整脈 / J波
Outline of Final Research Achievements

We reported that common variants at SCN5A-SCN10A and HEY2 are associated with a high risk of sudden cardiac death (SCD) in Brugada syndrome, and a nonsynonymous polymorphism in semaphorin 3A as a risk factor for SCD due to VF. The genetic defects in a His-Purkinje system transcription factor, IRX3, are associated with lethal cardiac arrhythmias in conjunction with Na channel defect. These findings suggest that Brugada or related sudden arrhythmic death syndrome are not a monogenic disease but associated with multiple mechanisms.
We also non-invasively evaluated risk of sudden arrhythmic death in the Brugada or J-wave syndrome using standard 12-lead ECG and multi-channel magnetocardiography (MCG).

Report

(4 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • 2012 Research-status Report
  • Research Products

    (25 results)

All 2015 2014 2013 2012 Other

All Journal Article (17 results) (of which Peer Reviewed: 17 results,  Open Access: 12 results,  Acknowledgement Compliant: 2 results) Presentation (7 results) (of which Invited: 4 results) Book (1 results)

  • [Journal Article] Risk Stratification in Patients With Brugada Syndrome Without Previous Cardiac Arrest2015

    • Author(s)
      Okamura H, Kamakura T, Morita H, Tokioka K, Nakajima I, Wada M, Ishibashi K, Miyamoto K, Noda T, Aiba T, Nishii N, Nagase S, Shimizu W, Yasuda S, Ogawa H, Kamakura S, Ito H, Ohe T, Kusano KF
    • Journal Title

      Circulation Journal

      Volume: 79 Issue: 2 Pages: 310-317

    • DOI

      10.1253/circj.CJ-14-1059

    • NAID

      130004704033

    • ISSN
      1346-9843, 1347-4820
    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations.2015

    • Author(s)
      Miyamoto K, Aiba T, Kimura H, Hayashi H, Ohno S, Yasuoka C, Tanioka Y, Tsuchiya T, Yoshida Y, Hayashi H, Tsuboi I, Nakajima I, Ishibashi K, Okamura H, Noda T, Ishihara M, Anzai T, Yasuda S, Miyamoto Y, Kamakura S, Kusano K, Ogawa H, Horie M, Shimizu W.
    • Journal Title

      Heart Rhythm

      Volume: 12 Issue: 3 Pages: 596-603

    • DOI

      10.1016/j.hrthm.2014.12.009

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Constitutive BDNF/TrkB signaling is required for normal cardiac contraction and relaxation.2015

    • Author(s)
      Feng N, Huke S, Zhu G, Tocchetti CG, Shi S, Aiba T, Kaludercic N, Hoover DB, Beck SE, Mankowski JL, Tomaselli GF, Bers DM, Kass DA, Paolocci N.
    • Journal Title

      Proc Natl Acad Sci U S A.

      Volume: 112 Issue: 6 Pages: 1880-1885

    • DOI

      10.1073/pnas.1417949112

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A Kir3.4 mutation causes Andersen–Tawil syndrome by an inhibitory effect on Kir2.1.2014

    • Author(s)
      Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K, Takahashi MP
    • Journal Title

      Neurology

      Volume: 82 Issue: 12 Pages: 1058-64

    • DOI

      10.1212/wnl.0000000000000239

    • Related Report
      2014 Annual Research Report 2013 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A mutation causing Brugada syndrome identifies a mechanism for altered autonomic and oxidant regulation of cardiac sodium currents.2014

    • Author(s)
      Aiba T, Farinelli F, Kostecki G, Hesketh GG, Edwards D, Biswas S, Tung L, Tomaselli GF.
    • Journal Title

      Circ Cardiovasc Genet.

      Volume: 7 Issue: 3 Pages: 249-256

    • DOI

      10.1161/circgenetics.113.000480

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Novel calmodulin mutations associated with congenital arrhythmia susceptibility.2014

    • Author(s)
      Makita N, Tsuji Y(39人中21番目)et al
    • Journal Title

      Circ Cardiovasc Genet.

      Volume: 7 Issue: 4 Pages: 466-474

    • DOI

      10.1161/circgenetics.113.000459

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia2014

    • Author(s)
      Arakawa J, Hamabe A, Aiba T, Nagai T, Yoshida M, Touya T, Ishigami N, Hisadome H, Katsushika S, Tabata H, Miyamoto Y, Shimizu W.
    • Journal Title

      Heart Vessels

      Volume: ePub Issue: 6 Pages: 835-840

    • DOI

      10.1007/s00380-014-0555-y

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A Mutation Causing Brugada Syndrome Identifies a Mechanism for Altered Autonomic and Oxidant Regulation of Cardiac Sodium Currents2014

    • Author(s)
      Aiba T1, Farinelli F, Kostecki G, Hesketh GG, Edwards D, Biswas S, Tung L, Tomaselli GF.
    • Journal Title

      Circulation Cardiovascular Genetics

      Volume: May

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Remodeling of the sarcomeric cytoskeleton in cardiac ventricular myocytes during heart failure and after cardiac resynchronization therapy2014

    • Author(s)
      Lichter JG1, Carruth E1, Mitchell C, Barth AS, Aiba T, Kass DA, Tomaselli GF, Bridge JH, Sachse FB.
    • Journal Title

      Journal of Molecular and Cellular Cardiology

      Volume: 72 Pages: 186-195

    • DOI

      10.1016/j.yjmcc.2014.03.012

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Congenital long QT syndrome with compound mutations in the KCNH2 gene2013

    • Author(s)
      Bando S, Soeki T, Matsuura T, Niki T, Ise T, Yamaguchi K, Taketani Y, Iwase T, Yamada H, Wakatsuki T, Akaike M, Aiba T, Shimizu W, Sata M.
    • Journal Title

      Heart Vessels

      Volume: - Issue: 4 Pages: 554-559

    • DOI

      10.1007/s00380-013-0406-2

    • NAID

      130002130326

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.2013

    • Author(s)
      Bezzina CR, Makita N(63人中31番目)et al
    • Journal Title

      Nat Genet.

      Volume: 45 Issue: 9 Pages: 1044-1049

    • DOI

      10.1038/ng.2712

    • Related Report
      2013 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Congenital long QT syndrome with compound mutations in the KCNH2 gene.2013

    • Author(s)
      Bando S, Soeki T, Matsuura T, Niki T, Ise T, Yamaguchi K, Taketani Y, Iwase T, Yamada H, Wakatsuki T, Akaike M, Aiba T, Shimizu W, Sata M.
    • Journal Title

      Heart and Vessels

      Volume: 22

    • NAID

      130002130326

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Significance of non-type 1 anterior early repolarization in patients with inferolateral early repolarization syndrome.2013

    • Author(s)
      Kamakura T, Kawata H, Nakajima I, Yamada Y, Miyamoto K, Okamura H, Noda T, Satomi K, Aiba T, Takaki H, Aihara N, Kamakura S, Kimura T, Shimizu W.
    • Journal Title

      Journal of American Collage of Cardiology

      Volume: 62 Issue: 17 Pages: 1610-1618

    • DOI

      10.1016/j.jacc.2013.05.081

    • Related Report
      2013 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Cardiac resynchronization therapy improves altered Na channel gating in canine model of dyssynchronous heart failure.2013

    • Author(s)
      Aiba T, Barth AS, Hesketh GG, Hashambhoy YL, Chakir K, Tunin RS, Greenstein JL, Winslow RL, Kass DA, Tomaselli GF.
    • Journal Title

      Circulation Arrhythmia and Electrophysiology

      Volume: 6 Issue: 3 Pages: 546-54

    • DOI

      10.1161/circep.113.000400

    • Related Report
      2013 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A nonsynonymous polymorphism in semaphorin 3A as a risk factor for human unexplained cardiac arrest with documented ventricular fibrillation2013

    • Author(s)
      Nakano Y, Makita N, (32人中31番目) et al
    • Journal Title

      PLOS Genet

      Volume: 9 Issue: 4 Pages: e1003364-e1003364

    • DOI

      10.1371/journal.pgen.1003364

    • NAID

      120006985866

    • Related Report
      2012 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Cardiac Resynchronization Therapy Improves Altered Na Channel Gating in Canine Model of Dyssynchronous Heart Failure2013

    • Author(s)
      Aiba Takeshi
    • Journal Title

      Circulation Arrhythmia and Electrophysiology

      Volume: in press

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Disease characterization using LQTS-specific induced pluripotent stem cells.2012

    • Author(s)
      Egashira T, Yuasa S, Suzuki T, Tohyama S, et al.
    • Journal Title

      Cardiovasc. Res.

      Volume: 95 Issue: 4 Pages: 419-29

    • DOI

      10.1093/cvr/cvs206

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Presentation] .Exome Sequencing-based Risk Stratification of Sudden Cardiac Death in the Long-QT Syndrome2014

    • Author(s)
      Aiba Takeshi
    • Organizer
      APHRS 2014
    • Place of Presentation
      New Deli, India
    • Year and Date
      2014-10-29 – 2014-11-01
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] Genetic-based Risk Stratification of Sudden Cardiac Death in the Long-QT Syndrome.2014

    • Author(s)
      Aiba Takeshi
    • Organizer
      The 29th Annual Meeting of the Japanese Heart Rhythm Society The 31th Annual Meeting of the Japanese Society of Electrocardiography
    • Place of Presentation
      Tokyo
    • Year and Date
      2014-07-23 – 2014-07-25
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] High Resolution Magnetocardiography as a Novel Noninvasive Tool to Distinguish between Benign and Malignant Early Repolarization Pattern2014

    • Author(s)
      Takeshi Aiba, Naotsugu Iwakami, Hiroshi Takaki, Kohei Ishibashi, Ikutaro Nakajima, Koji Miyamoto, Hideo Okamura, Takashi Noda, Kengo Kusano, Satoshi Yasuda, Masaru Sugimachi, Wataru Shimizu, Shiro Kamakura, Hisao Ogawa.
    • Organizer
      日本循環器学会
    • Place of Presentation
      東京国際フォーラム
    • Related Report
      2013 Research-status Report
  • [Presentation] Clinical and Genetic Features of Japanese Patients with Congenital Long QT syndrome2013

    • Author(s)
      相庭武司
    • Organizer
      日本循環器学会
    • Place of Presentation
      横浜
    • Related Report
      2012 Research-status Report
  • [Presentation] Noninvasive Evaluation of Arrhythmic Substrate in the Brugada Syndrome using High Resolution Magnetocardiography2012

    • Author(s)
      Aiba Takeshi
    • Organizer
      米国心臓病協会年次総会
    • Place of Presentation
      ロサンゼルス
    • Related Report
      2012 Research-status Report
  • [Presentation] J波の機序:From Cell to Bedside.2012

    • Author(s)
      相庭武司
    • Organizer
      日本心電学会学術集会
    • Place of Presentation
      幕張(千葉)
    • Related Report
      2012 Research-status Report
    • Invited
  • [Presentation] Diverse Gender risk on Long QT Syndrome and Brugada Syndrome

    • Author(s)
      Aiba T
    • Organizer
      Taiwan-Heart Rhythm Society
    • Place of Presentation
      WESTIN Taipei
    • Related Report
      2013 Research-status Report
    • Invited
  • [Book] 遺伝性不整脈の薬物療法2014

    • Author(s)
      相庭武司
    • Total Pages
      6
    • Publisher
      メジカルレビュー
    • Related Report
      2013 Research-status Report

URL: 

Published: 2013-05-31   Modified: 2019-07-29  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi