Genetic epidemiology in the ion channel disease

• Project/Area Number: 25460406
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Human genetics
• Research Institution: Shiga University of Medical Science
• Principal Investigator: Itoh Hideki 滋賀医科大学, 医学部, 講師 (30402738)
• Co-Investigator(Kenkyū-buntansha): 堀江 稔 滋賀医科大学, 医学部, 教授 (90183938)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000); Fiscal Year 2016: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2013: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
• Keywords: QT延長症候群 / 遺伝子 / KCNQ1 / イオンチャネル / メンデル遺伝 / 変異 / 機能

Outline of Final Research Achievements

We studied 3782 genotyped members from 679 European and Japanese LQTS families (2748 carriers). LQTS alleles were more of maternal than paternal origin (61 vs 39%, P<0.001). For LQT1, maternal transmission differs according to the variant level of dysfunction with 68% of maternal transmission for dominant negative or unknown functional consequence variants vs 58% for non-dominant negative and variants leading to haploinsuficiency, P<0.01. An excess of disease-causing alleles of maternal origin, most pronounced in LQT1, was consistently found across ethnic groups. This observation does not seem to be linked to an imbalance in transmission of the LQTS subtype-specic grandparental allele, but to the potential degree of potassium channel dysfunction.

Research Products

• [Int'l Joint Research] UPMC Univ Paris 06/Groupe Hospitalier Pitie－Salpetriere/Hospital Bichat, Cardiology Department(フランス)
• [Int'l Joint Research] University Hospital Munster(ドイツ)
• [Int'l Joint Research] University of Amsterdam(オランダ)
• [Journal Article] Arrhtyhmia risk and β-blocker therapy in pregnant women with long QT syndrome. (2017)
  • Author(s): Ishibashi K, Horie M, et al.
  • Journal Title: Heart Volume: 印刷中 Issue: 17 Pages: 0-0
  • DOI: 10.1136/heartjnl-2016-310617
  • Peer Reviewed / Open Access
• [Journal Article] 疾患・病態別にみた医薬品の禁忌 循環器疾患 (2017)
  • Author(s): 伊藤英樹
  • Journal Title: 月刊薬事 Volume: 印刷中
• [Journal Article] The genetics underlying acquired long QT syndrome: impact for genetic screening. (2016)
  • Author(s): Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M.
  • Journal Title: European Heart Journal Volume: 37 (18) Issue: 18 Pages: 1456-1464
  • DOI: 10.1093/eurheartj/ehv695
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy. (2016)
  • Author(s): Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino Y,.......Zimmer T, Furling D, Takahashi MP, Charlet-Berguerand N.
  • Journal Title: Nat Commun. Volume: 7 Issue: 1 Pages: 11067-11067
  • DOI: 10.1038/ncomms11067
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Pediatric Cohort With Long QT Syndrome – <i>KCNH2</i> Mutation Carriers Present Late Onset But Severe Symptoms – (2016)
  • Author(s): Ozawa, J. Ohno, S. Horie M, et al.
  • Journal Title: Circulation Journal Volume: 80 Issue: 3 Pages: 696-702
  • DOI: 10.1253/circj.CJ-15-0933
  • NAID: 130005128459
  • ISSN: 1346-9843, 1347-4820
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Multigenerational Inheritance of Long QT Syndrome Type 2 in a Japanese Family (2016)
  • Author(s): Ichikawa M, Ohno S, Fujii Y, Ozawa J, Sonoda K, Fukuyama M, Kato K, Kimura H, Itoh H, Hayashi H, Horie M.
  • Journal Title: Internal Medicine Volume: 55 Issue: 3 Pages: 259-262
  • DOI: 10.2169/internalmedicine.55.6014
  • NAID: 130005122603
  • ISSN: 0918-2918, 1349-7235
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Practical applicability of landiolol, an ultra-short-acting β1-selective blocker, for rapid atrial and ventricular tachyarrhythmias with left ventricular dysfunction. (2016)
  • Author(s): Wada Y, Aiba T, Tsujita Y, Itoh H, Wada M, Nakajima I, Ishibashi K, Okamura H, Miyamoto K, Noda T, Sugano Y, Kanzaki, Toshihisa Anzai, Kengo Kusano H, Yasuda S, Horie M, Ogawa H
  • Journal Title: Journal of Arrhythmia Volume: (32) Issue: 2 Pages: 82-88
  • DOI: 10.1016/j.joa.2015.09.002
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results from Study of Patients Carrying Gene Mutations. (2016)
  • Author(s): Hayashi K, Konno T, Fujino N, Itoh H, Fujii Y, Imi-Hashida Y, Tada H, Tsuda T, Tanaka Y, Saito T, Ino H, Kawashiri M, Ohta K, Horie M, Yamagishi.M.
  • Journal Title: JACC Clin Electrophysiol Volume: 2 Issue: 3 Pages: 279-287
  • DOI: 10.1016/j.jacep.2016.01.003
  • Peer Reviewed
• [Journal Article] Early repolarization and risk of arrhythmia events in long QT syndrome. (2016)
  • Author(s): Hasegawa K, Watanabe H, Hisamatsu T, Ohno S, Itoh H, Ashihara T, Hayashi H, Makiyama T, Minamino T, Horie M.
  • Journal Title: Int J Cardiol. Volume: 223 Pages: 540-542
  • DOI: 10.1016/j.ijcard.2016.08.215
  • Peer Reviewed / Open Access
• [Journal Article] A novel SCN5A variant associate with drug-induced Brugada Syndrome (2016)
  • Author(s): Turker I, Horie M, et al.
  • Journal Title: Plos ONE Volume: 11 Issue: 8 Pages: e0161872-e0161872
  • DOI: 10.1371/journal.pone.0161872
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Patient-Specific Human Induced Pluripotent Stem Cell Model Assessed with Electrical Pacing Validates S107 as a Potential Therapeutic Agent for Catecholaminergic Polymorphic Ventricular Tachycardia (2016)
  • Author(s): Sasaki K, Makiyama T, Yoshida Y, Wuriyanghai Y, Kamakura T, Nishiuchi S, Hayano M, Harita T, Yamamoto Y, Kohjitani H, Hirose S, Chen J, Kawamura M, Ohno S, Itoh H, Takeuchi A, Matsuoka S, Miura M, Sumitomo N, Horie M, Yamanaka S, Kimura T
  • Journal Title: PLoS One Volume: 11 Issue: 10 Pages: e0164795-e0164795
  • DOI: 10.1371/journal.pone.0164795
  • NAID: 120005860036
  • Peer Reviewed / Open Access
• [Journal Article] Phenotypic Variability of <i>ANK2</i> Mutations in Patients With Inherited Primary Arrhythmia Syndromes (2016)
  • Author(s): Ichikawa M, Horie M, et al.
  • Journal Title: Circulation Journal Volume: 80 Issue: 12 Pages: 2435-2442
  • DOI: 10.1253/circj.CJ-16-0486
  • NAID: 130005284992
  • ISSN: 1346-9843, 1347-4820
  • Peer Reviewed / Open Access
• [Journal Article] A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsade de pointe ventricular arrhythmia. (2016)
  • Author(s): Fujii Y, Horie M, et al.
  • Journal Title: Heart Rhythm Volume: 14 Issue: 1 Pages: 98-107
  • DOI: 10.1016/j.hrthm.2016.10.015
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Asymmetry of parental origin in Long QT syndrome. Preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. (2015)
  • Author(s): Itoh H, Berthet M, Fressart V, Denjoy I, Maugenre S, Klug D, Mizusawa Y, Makiyama T, Hofman N, Shimizu W, Wilde AAM, Schulze-Bahr E, Horie M, Tezenas du Montcel S, Guicheney P.
  • Journal Title: European Journal of Human Genetics Volume: - Issue: 8 Pages: 1160-6
  • DOI: 10.1038/ejhg.2015.257
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] L&ouml;ffler Endocarditis and Lacking Heart (2015)
  • Author(s): Sawayama Y, Itoh H, Sakai H, Horie M.
  • Journal Title: Internal Medicine Volume: 54 Issue: 23 Pages: 3093-3093
  • DOI: 10.2169/internalmedicine.54.5622
  • NAID: 130005112846
  • ISSN: 0918-2918, 1349-7235
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A Common Mutation of Long QT Syndrome Type 1 in Japan (2015)
  • Author(s): Itoh H, Dochi K, Shimizu W, Denjoy I, Ohno S, Aiba T, Kimura H, Kato K, Fukuyama M, Hasagawa K, Schulze-Bahr E, Guicheney P, Horie M.
  • Journal Title: Circulation Journal Volume: 79 Issue: 9 Pages: 2026-2030
  • DOI: 10.1253/circj.CJ-15-0342
  • NAID: 130005095315
  • ISSN: 1346-9843, 1347-4820
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Mosaic KCNJ2 mutation in Andersen-Tawil syndrome: targeted deep sequencing is useful for the detection of mosaicism. (2015)
  • Author(s): Hasegawa K, Ohno S, Kimura H, Itoh H, Makiyama T, Yoshida Y, Horie M.
  • Journal Title: Clin Genet Volume: 87 Issue: 3 Pages: 279-83
  • DOI: 10.1111/cge.12357
  • Peer Reviewed / Open Access
• [Journal Article] Nonsense-mediated mRNA decay due to a CACNA1C splicing mutation in a patient with Brugada syndrome. (2014)
  • Author(s): Fukuyama M, Ohno S, Wang Q, Shirayama T, Itoh H, Horie M.
  • Journal Title: Heart Rhythm Volume: 11 Issue: 4 Pages: 629-34
  • DOI: 10.1016/j.hrthm.2013.12.011
  • Peer Reviewed
• [Journal Article] Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction (2014)
  • Author(s): Ohno S, Omura M, Kawamura M, Kimura H, Itoh H, Makiyama T, Ushinohama H, Makita N, Horie M
  • Journal Title: Europace Volume: in press Issue: 11 Pages: 1646-1654
  • DOI: 10.1093/europace/eut382
  • Peer Reviewed
• [Journal Article] Gain-of-function KCNH2 mutations in patients with Brugada syndrome. (2014)
  • Author(s): Wang Q, Ohno S, Ding WG, Fukuyama M, Miyamoto A, Itoh H, Makiyama T, Wu J, Bai J, Hasegawa K, Shinohara T, Takahashi N, Shimizu A, Matsuura H, Horie M.
  • Journal Title: J Cardiovasc Electrophysiol. Volume: 25 Issue: 5 Pages: 522533-522533
  • DOI: 10.1111/jce.12361
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Long QT Syndrome Type8: Novel CACNA1C Mutations Causing QT Prolongation and Variant Phenotypes. (2014)
  • Author(s): Fukuyama M, Wang Q, Kato K, Ohno S, Ding WG, Toyoda F, Itoh H, Kimura H, Makiyama T, Ito M, Matsuura H, Horie M.
  • Journal Title: Europace. Volume: in press Issue: 12 Pages: 1828-37
  • DOI: 10.1093/europace/euu063
  • Peer Reviewed / Open Access
• [Journal Article] Long-term pharmacological therapy of Brugada syndrome: is J-wave attenuation a marker of drug efficacy? (2014)
  • Author(s): Hasegawa K, Ashihara T, Kimura H, Jo H, Itoh H, Yamamoto T, Aizawa Y, Horie M.
  • Journal Title: Intern Med Volume: 2014 Pages: 1523-6
  • NAID: 130004466395
  • Peer Reviewed
• [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
  • Peer Reviewed / Open Access
• [Journal Article] Cardiac channelopathies associated with infantile fatal ventricular arrhythmias: from the cradle to the bench. (2014)
  • Author(s): Kato K, Makiyama T, Wu J, Ding WG, Kimura H, Naiki N, Ohno S, Itoh H, Nakanishi T, Matsuura H, Horie M.
  • Journal Title: J Cardiovasc Electrophysiol Volume: 25 Issue: 1 Pages: 66-73
  • DOI: 10.1111/jce.12270
  • Peer Reviewed
• [Journal Article] A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels. (2014)
  • Author(s): Hasegawa K, Ohno S, Ashihara T, Itoh H, Ding WG, Toyoda F, Makiyama T, Aoki H, Nakamura Y, Delisle BP, Matsuura H, Horie M.
  • Journal Title: Heart Rhythm Volume: 11 Issue: 1 Pages: 67-75
  • DOI: 10.1016/j.hrthm.2013.09.073
  • Peer Reviewed
• [Journal Article] Long-term Pharmacological Therapy of Brugada Syndrome: Is Attenuation of J waves a Marker of Drug Efficacy? (2014)
  • Author(s): Hasegawa K, Ashihara T, Kimura H, Jo Hikari, Itoh H, Yamamoto T, Aizawa Y, Horie M.
  • Journal Title: Internal Med Volume: in press
  • Peer Reviewed
• [Journal Article] Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long QT syndrome. (2013)
  • Author(s): Duchatelet S, Crotti L, Horie M. et al.
  • Journal Title: Circulation Cardiovasc Genet Volume: 6(4) Issue: 4 Pages: 354-61
  • DOI: 10.1161/circgenetics.113.000023
  • Peer Reviewed
• [Journal Article] Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. (2013)
  • Author(s): Kawamura M, Ohno S, Naiki N, Nagaoka I, Dochi K, Wang Q, Hasegawa K, Kimura H, Miyamoto A, Mizusawa Y, Itoh H, Makiyama T, Sumitomo N, Ushinohama H, Oyama K, Murakoshi N, Aonuma K, Horigome H, Honda T, Yoshinaga M, Ito M, Horie M.
  • Journal Title: Circ J Volume: 77 Pages: 1705-13
  • NAID: 10031173750
  • Peer Reviewed
• [Journal Article] L-type calcium channel mutations in Japanese patients with inherited arrhythmias. (2013)
  • Author(s): Fukuyama M, Ohno S, Wang Q, Kimura H, Makiyama T, Itoh H, Ito M, Horie M.
  • Journal Title: Circ J Volume: 77 Pages: 1534-42
  • NAID: 10031173762
  • Peer Reviewed
• [Presentation] Acquired prolongation of QT interval is really “acquired” or genetic disease? (2016)
  • Author(s): Itoh H
  • Organizer: 第63回日本不整脈心電学会学術集会 遺伝性不整脈国際研究シンポジウム
  • Place of Presentation: 札幌
  • Year and Date: 2016-07-14
  • Invited
• [Presentation] 滋賀医科大学附属病院におけるアミオダロンによる間質性肺炎 (2015)
  • Author(s): Hayashi H, Itou H, Ashihara T, Ozawa T, Katou K, Hujii Y, Sakata K, Horie M.
  • Organizer: アミオダロン研究会
  • Place of Presentation: 横浜
  • Year and Date: 2015-10-03
• [Presentation] 完全房室ブロックに伴いTorsade de Pointesを来たし，Tpeak-Tend延長が発作 予測に有効であることが示唆された一例． (2015)
  • Author(s): 諸戸礼知安，加藤浩一，藤居祐介，小澤友哉，芦原貴司，伊藤英樹，堀江 稔.
  • Organizer: 第63回日本心臓病学会学術集会
  • Place of Presentation: 横浜
  • Year and Date: 2015-09-18
• [Presentation] AKAP9 mutations identified in young patientswith idiopathic ventricular fibrillation or polymorphic ventricular tachycardia. (2015)
  • Author(s): Sonoda K, Ohno S, Ichikawa M, Fujii Y, Wang Q, Kato K, Fukuyama M, Ito H, Hayashi H, Horie M
  • Organizer: ESC CONGRESS
  • Place of Presentation: England
  • Year and Date: 2015-08-29
  • Int'l Joint Research
• [Presentation] Nonsense-Mediated mRNA Decay due to a CACNA1C Splicing Mutation in a Patient with Brugada Syndrome (2015)
  • Author(s): Fukuyama M, Ohno S, Wang Q, ShirayamaT，Itoh H, Horie M.
  • Organizer: 第30回日本不整脈学会学術大会
  • Place of Presentation: 京都
  • Year and Date: 2015-07-28
• [Presentation] Arrhythmogenic ventricular cardiomyopathy with peculiar ventricular aneurysm and TMEM43 mutations. (2015)
  • Author(s): Ichikawa M, Ohno S, Fujii Y, Ozawa J, Sonoda K, Fukuyama M, Kato K, Itoh H,Horie M.
  • Organizer: EHRA EUROPACE CARDIOSTIM 2015
  • Place of Presentation: Milan
  • Year and Date: 2015-06-21
  • Int'l Joint Research
• [Presentation] 薬剤負荷による遺伝子型の予測が困難であった QT 延長症候群の一例. (2015)
  • Author(s): 中村恵理子、伊藤英樹、藤居祐介、加藤浩一、澤山裕一、八木典章、松本祐一、福山 恵、服部哲久、木村紘美、小澤友哉、芦原貴司、酒井 宏、山本 孝、林 秀樹、福原武久、堀江 稔.
  • Organizer: 第119回日本循環器学会近畿地方会
  • Place of Presentation: 大阪
  • Year and Date: 2015-06-20
• [Presentation] 慢性心房細動の治療戦略. 自験例と理論的見地から. (2015)
  • Author(s): 坂田憲祐，小澤友哉，芦原貴司，加藤浩一，藤居祐介，服部哲久，伊藤英樹，杉本喜久，堀江 稔.
  • Organizer: 第30回京滋奈良ハートリズム研究会
  • Place of Presentation: 京都
  • Year and Date: 2015-05-23
• [Presentation] The genetics underlying the acquired long QT syndrome. Impact on management. (2015)
  • Author(s): Itoh H, Spazzolini C, Crotti L, Aiba T, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M.
  • Organizer: The Heart Rhythm Society's 36th Annual Scientific Sessions
  • Place of Presentation: Boston
  • Year and Date: 2015-05-13
  • Int'l Joint Research
• [Presentation] Usefulness of Benchtop Next Generation Sequencer in Research of Inherited Primary Arrhythmia Syndromes. (2015)
  • Author(s): Ohno S, Fukuyama M, Itoh H, Makiyama T, Horie M.
  • Organizer: The 79th Annual Scientific Meeting of the Japanese Circulation Society
  • Place of Presentation: Osaka
  • Year and Date: 2015-04-24 – 2015-04-26
• [Presentation] Pregnancy in the Congenital Long-QT Syndrome: Efficacy and Safety of Beta-Blocker Therapy for Prevention of Lethal Ventricular Arrhythmias (2015)
  • Author(s): Ishibashi K, Aiba T, Sakaguchi H, Miyazaki A, Kamiya C, Yamauchi T, Ito H, Ohno S, Motomura H, Ozawa T, Goto H, Watanabe H, Yohsimatsu J, Kamakura S, Miyamoto Y, Shiraishi I, Yasuda S, Ogawa H, Horie M, Shimizu W, Kusano K.
  • Organizer: The 79th Annual Scientific Meeting of the Japanese Circulation Society
  • Place of Presentation: Osaka
  • Year and Date: 2015-04-24 – 2015-04-26
• [Presentation] Electrophysiological Properties of L-type Calcium Channels in Human Induced Pluripotent Stem Cells-Derived Cardiomyocytes (2015)
  • Author(s): Harita T, Makiyama T, Sasaki K, Hayano M, Nishiuchi S, Yamamoto Y, Kohjitani H, Chen J, Wuriyanghai Y, Ohno S, Ito H, Yoshida Y, Horie M, Kimura T.
  • Organizer: The 79th Annual Scientific Meeting of the Japanese Circulation Society
  • Place of Presentation: Osaka
  • Year and Date: 2015-04-24 – 2015-04-26
• [Presentation] Usefulness of Benchtop Next Generation Sequencer in Research of Inherited Primary Arrhythmia Syndromes. (2015)
  • Author(s): Ohno S,Fukuyama M,Itoh H,Makiyama T,Horie M.
  • Organizer: 第79回日本循環器学会総会・学術集会
  • Place of Presentation: 大阪
  • Year and Date: 2015-04-24
• [Presentation] Genetics of ventricular fibrillation with short-coupled torsade de pointes. (2015)
  • Author(s): Malorie Blancard, Estelle Gandjbakhch, Fabrice Extramiana, Vincent Probst, Michel Haissaguerre, Hideki Itoh, Pascale Guicheney
  • Organizer: Printemps de la Cardiologie
  • Place of Presentation: Dijon
  • Year and Date: 2015-04-07
  • Int'l Joint Research
• [Presentation] 完全房室ブロックに伴いTorsade de Pointesを発症した二次性QT延長症候群の１例 (2015)
  • Author(s): 諸戸礼知安, 加藤浩一, 藤居祐介, 小澤友哉, 芦原貴司, 伊藤英樹, 堀江 稔
  • Organizer: 第207回日本内科学会近畿地方会
  • Place of Presentation: 大阪
  • Year and Date: 2015-03-07
• [Presentation] 小児ＱＴ延長症候群:ＬＱＴ２は発症年齢が高いが重症例が多い (2015)
  • Author(s): 小澤淳一, 大野聖子, 伊藤英樹, 牧山 武, 堀江 稔
  • Organizer: 第26回滋賀不整脈研究会
  • Place of Presentation: 滋賀
  • Year and Date: 2015-02-28
• [Presentation] Short-coupled variant of torsade de pointesに対するverapamilの有効性 (2015)
  • Author(s): 藤居祐介、伊藤英樹、小澤友哉、服部哲久、芦原貴司、八木典章、松本祐一、木村紘美、酒井 宏、山本 孝、林 秀樹、大野聖子、堀江 稔、中川義久、山本 聖、松井由美恵
  • Organizer: 第13回特発性心室細動研究会
  • Place of Presentation: 東京
  • Year and Date: 2015-02-14
• [Presentation] Young long QT syndrome patients with KCNH2 mutations have late onset but severe symptoms. (2014)
  • Author(s): Ozawa J, Ohno S, Itoh H, Makiyama T, Horie M.
  • Organizer: AHA Scientific Sessions 2014
  • Place of Presentation: Chicago,アメリカ合衆国
  • Year and Date: 2014-11-15 – 2014-11-19
• [Presentation] The Prognosis of Andersen-Tawil syndrome is not so benign as ever thought (2014)
  • Author(s): Kimura H, Itoh H, Ohno S, Fukuyama M, Kato K, Ichikawa M, Fujii Y, Makiyama T, Horie M.
  • Organizer: AHA Scientific Sessions 2014
  • Place of Presentation: Chicago,アメリカ合衆国
  • Year and Date: 2014-11-15 – 2014-11-19
• [Presentation] Acquired long QT syndrome. (2014)
  • Author(s): Itoh H.
  • Organizer: 7th APHRS 2014
  • Place of Presentation: New Delhi,インド
  • Year and Date: 2014-10-29 – 2014-11-01
  • Invited
• [Presentation] Identification of latent mutations in primary inherited arrhythmia syndromes using benchtop next generation sequencer. (2014)
  • Author(s): Ohno S, Fukuyama M, Itoh H, Makiyama T, Horie M.
  • Organizer: ESC CONGRESS 2014
  • Place of Presentation: Barcelona,スペイン
  • Year and Date: 2014-08-30 – 2014-09-03
• [Presentation] High frequency of ANK2 mutations in patients with non-genotyped primary inherited arrhythmia syndromes. (2014)
  • Author(s): Ohno S, Fukuyama M, Itoh H, Makiyama T, Horie M.
  • Organizer: ESC CONGRESS 2014
  • Place of Presentation: Barcelona,スペイン
  • Year and Date: 2014-08-30 – 2014-09-03
• [Presentation] Identification of novel SCN10A variants in Brugada syndrome patients. (2014)
  • Author(s): Fukuyama M, Ohno S, Makiyama T, Hasegawa K, Itoh H, Horie M.
  • Organizer: ESC CONGRESS 2014
  • Place of Presentation: Barcelona,スペイン
  • Year and Date: 2014-08-30 – 2014-09-03
• [Presentation] Genetics in acquired long QT syndrome. (2014)
  • Author(s): Pedrazzini M, Itoh H, Crotti L, Aiba T, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Yamagishi M, Berthet M, Shimizu W, Guicheney P, Schwartz PJ, Horie M.
  • Organizer: ESHG 2014
  • Place of Presentation: Milano,イタリア共和国
  • Year and Date: 2014-05-31 – 2014-06-03
• [Presentation] Mosaic KCNJ2 Mutation in Andersen-Tawil syndrome:Targeted Deep Sequencing is Useful for the Detection of Mosaicism (2014)
  • Author(s): Hasegawa K,Ohno S,Kimura H,Itoh H,Makiyama T,Yoshida Y,Horie M.
  • Organizer: Heart Rhythm2014
  • Place of Presentation: San Francisco, アメリカ合衆国
  • Year and Date: 2014-05-06 – 2014-05-11
• [Presentation] Both Gain- and Loss-of-Function SCN5A Mutations Associated with Infantile Fatal Ventricular Arrhythmias (2014)
  • Author(s): Koichi Kato, Takeru Makiyama, Jie Wu, Wei-Guang Ding, Hiromi Kimura, Nobu Naiki, Seiko Ohno, Hideki Itoh, Toshio Nakanishi, Hiroshi Matsuura, Minoru Horie
  • Organizer: ACC 2014
  • Place of Presentation: Washington
• [Presentation] 後天性QT延長症候群の発症病態 (2014)
  • Author(s): 伊藤英樹、Crotti Lia、Schwartz J Peter、林研至、中島忠、大野聖子、牧山武、山岸正和、井本敬二、Pascale Guicheney、堀江稔
  • Organizer: 第91回日本生理学会大会
  • Place of Presentation: 鹿児島
  • Invited
• [Presentation] Kir3.4変異はKir2.1に対する抑制作用を通してAndersen-Tawil 症候群を引き起こす (2014)
  • Author(s): 田充、殻内洋介、中田智彦、坂田宗平、木村紘美、相庭武司、吉永正夫、大崎裕亮、中森雅之、伊藤秀樹、佐藤貴子、久保田智哉、門田一繁、進藤克郎、望月秀樹、清水渉、堀江稔、岡村康司、大野欽司、高橋正紀
  • Organizer: 第55回日本神経学会学術大会
  • Place of Presentation: 福岡
• [Presentation] Asymmetry of parental origin in Long QT syndrome. European Human Genetics Conference (2013)
  • Author(s): Itoh H, Berthet M, Fressart V, Denjoy I , Maugenre S, Klug D, Mizusawa Y, Makiyama T, Hofman N, Husemann A, Shimizu W, Wilde AA , Schulze-Bahr E, Horie M, du Montcel ST, Guicheney P.
  • Organizer: European Human Genetics Conference
  • Place of Presentation: Paris, France
• [Presentation] Exon-3 deletion of RyR2 encoding cardiac ryanodine receptor related to left ventricular non-compaction (LVNC) with ventricular arrhythmia and bradycardia. (2013)
  • Author(s): Ohno S, Omura M, Kawamura M, Kimura H, Itoh H, Makiyama T, Ushinohama H, Makita N, Horie M.
  • Organizer: EHRA EUROPACE 2013
  • Place of Presentation: Athens, Greek
• [Presentation] Underlying Mechanisms in Forme Fruste Long QT Syndrome Manifested by Acquired Factors. (2013)
  • Author(s): Itoh H.
  • Organizer: The 2nd HD Physiology International Symposium
  • Place of Presentation: Tokyo, Japan
• [Presentation] Novel CACNA1C mutations in Long QT syndrome patients- The subtype of Long QT syndrome type 8. (2013)
  • Author(s): Fukuyama M, Wang Q, Kato K, Ohno S, Kimura H, Makiyama T, Itoh H, Ito M, Matsuura H, Horie M.
  • Organizer: Denis Escande Symposium 2013
  • Place of Presentation: Amsterdam, the Netherlands
• [Presentation] Copy number variation in KCNQ1 gene were frequently identified in the pediatric patients of long QT syndrome and caused exercise related QT prolongation. (2013)
  • Author(s): Ohno S, Fukuyama M, Itoh H, Makiyama T, Horie M.
  • Organizer: ESC CONGRESS 2013
  • Place of Presentation: Amsterdam, the Netherlands
• [Presentation] Altered splicing of cardiac sodium channel might be responsible for cardiac conduction defects in myotonic dystrophy. (2013)
  • Author(s): Kokunai Y, Kino Y, Li M, Itoh H, Nakamori M, Kimura T, Matsumura T, Fujimura H, Nukina N, Sakoda S, Horie M, Imoto K, Ishiura S, Swanson MS, Charlet-Berguerand N, Takahashi MP.
  • Organizer: The 9th International Myotonic Dystrophy Consortium
  • Place of Presentation: Basque, Spain
• [Presentation] Phenotypic characterization of three patients with lethal arrhythmia related to KCNH2-R148W missense mutation. (2013)
  • Author(s): Ohno S, Wang Q, Hasegwas K, Itoh H, Makiyama T, Horie M.
  • Organizer: 6th APHRS & CardioRhythm 2013
  • Place of Presentation: Hong Kong, China
• [Presentation] The High Prevalence of Early Repolarization in Genotyped Long QT Syndrome. (2013)
  • Author(s): Hasegawa K, Watanabe H, Ohno S, Itoh H, Makiyama T, Ashihara T, Hayashi H, Horie M.
  • Organizer: AHA Scientific Sessions 2013
  • Place of Presentation: Dallas, USA
• [Presentation] 心室細動後の12誘導心電図で広範囲なST上昇を認めたJ wave syndromeの一例 (2013)
  • Author(s): 冨田行則、服部哲久、伊藤英樹、児玉 健二、福沢綾子、高橋宏明、八木典章、木村紘美、山科 聡、酒井 宏、小澤友哉、山本 孝、伊藤 誠、堀江 稔
  • Organizer: 第115回日本循環器学会近畿地方会
  • Place of Presentation: 京都
• [Presentation] KCNH2遺伝子変異による徐脈性QT延長症候群の一家系 (2013)
  • Author(s): 中泉伸彦、伊藤英樹、児玉 浩、富田行則、八木典章、服部哲久、木村紘美、酒井 宏、小澤友哉、山本 孝、伊藤 誠、堀江 稔、椙本 晃
  • Organizer: 第115回日本循環器学会近畿地方会
  • Place of Presentation: 京都
• [Presentation] 若年時に診断された催不整脈性右室心筋症・異形成（ARVC/D）患者の臨床的および遺伝的特徴 (2013)
  • Author(s): 大野聖子、福山 恵、長谷川奏恵、木村紘美、伊藤英樹、牧山 武、堀江 稔
  • Organizer: 第30回日本心電学会
  • Place of Presentation: 青森
• [Presentation] short-coupled variant of torsade de pointes の遺伝的背景 (2013)
  • Author(s): 堀本かんな、伊藤英樹、小澤友哉、内貴乃生、冨田行則、藤居祐介、八木典章、服部哲久、木村紘美、芦原貴司、松本祐一、酒井 宏、山本 孝、伊藤 誠、堀江 稔
  • Organizer: 第116回日本循環器学会近畿地方会
  • Place of Presentation: 大阪
• [Presentation] VerapamilがVF stormに有効であった突発性心室細動の１例 (2013)
  • Author(s): 藤居祐介、伊藤英樹、服部哲久、小澤友哉、芦原貴司、児玉健二、高橋宏明、福沢綾子、冨田行則、八木典章、松本祐一、内貴乃生、木村紘美、酒井 宏、山本 孝、伊藤 誠、堀江 稔
  • Organizer: 第75回滋賀県循環器疾患研究会
  • Place of Presentation: 滋賀
• [Book] Electrocardiography A to Z-心電図のリズムと波を見極める. (2015)
  • Author(s): 伊藤英樹、他
  • Total Pages: 299
  • Publisher: 日本医師会雑誌特別号
• [Book] 不整脈症候群 (2015)
  • Author(s): 伊藤英樹、他
  • Total Pages: 204
  • Publisher: 南江堂
• [Book] 見逃すな！薬物中毒と電解質異常. レジデントノート 心電図の読み方トレニーング (2013)
  • Author(s): 伊藤英樹
  • Publisher: 羊土社
• [Remarks] http://www.shiga-med.ac.jp/~hqmed1/
• [Remarks] 滋賀医科大学 呼吸循環器内科
  • URL: http://www.shiga-med.ac.jp/~hqmed1/
• [Remarks] 滋賀医科大学 研究情報データベース
  • URL: http://www.shiga-med.ac.jp/db/pub_top.php