Investigation of the correlation between genetic background and clinical phenotype in congenital long QT syndrome diagnosed in fetal and neonatal life
| Project/Area Number |
24591599
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Embryonic/Neonatal medicine
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| Research Institution | University of Tsukuba |
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Principal Investigator |
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | 遺伝性不整脈 / 先天性QT延長症候群 / 致死性不整脈 / 胎児・新生児 / 胎児徐脈 / イオンチャネル / 遺伝子検査 / 突然死 / 乳児 / 胎児心磁図 / チャネル機能解析 |
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| Outline of Final Research Achievements |
Nationwide survey was conducted on early-onset congenital long QT syndrome (LQTS), and revealed that patients who showed malignant clinical course with life-threatening ventricular tachycardia or atrioventricular block (AVB) were mostly those with LQTS type 2, 3, and 8. Functional 2:1 AVB was considered characteristic sign of malignant forms of early-onset LQTS. To save the lives of these patients, multiple-pharmacotherapy, including beta-blocker, sodium channel blocker (mexiletine) and magnesium, combined with pacemaker implantation is recommended.
We also analyzed the T-wave morphology on ECG by the newly-developed independent component analysis (ICA) as well as principal component analysis (PCA). Additional components which constitute the T wave were detected by ICA and a high PCA ratio (second/first eigenvector ratio) was obtained in patients with LQTS, indicating usefulness of ICA and PCA for diagnosis of LQTS.
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Report
(4 results)
Research Products
(47 results)
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[Journal Article] Fetal bradyarrhythmia associated with congenital heart defects - nationwide survey in Japan.2015
Author(s)
Miyoshi T, Maeno Y, Sago H, Inamura N, Yasukouchi S, Kawataki M, Horigome H, Yoda H, Taketazu M, Shozu M, Nii M, Kato H, Hagiwara A, Omoto A, Shimizu W, Shiraishi I, Sakaguchi H, Nishimura K, Nakai M, Ueda K, Katsuragi S, Ikeda T.
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Journal Title
Circulation Journal
Volume: 79
Pages: 854-861
NAID
Related Report
Peer Reviewed / Open Access
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[Journal Article] 治療困難症例から学ぶ 心構造異常を伴う胎児徐脈性不整脈についての検討 胎児徐脈の胎児治療に関する現状調査2002-2008より2014
Author(s)
三好 剛一, 前野 泰樹, 左合 治彦, 稲村 昇, 安河内 聰, 川滝 元良, 堀米 仁志, 与田 仁志, 竹田津 未生, 生水 真紀夫, 新居 正基, 賀藤 均, 萩原 聡子, 尾本 暁子, 白石 公, 坂口 平馬, 西村 邦宏, 上田 恵子, 桂木 真司, 池田 智明
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Journal Title
日本周産期・新生児医学会雑誌
Volume: 50
Related Report
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[Journal Article] Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan2013
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
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Journal Title
Circ J
Volume: 77
Pages: 1705-13
NAID
Related Report
Peer Reviewed
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[Journal Article] Successful catheter ablation of bidirectional ventricular premature contractions triggering ventricular fibrillation in catecholaminergic polymorphic ventricular tachycardia with RyR2 mutation2012
Author(s)
Kaneshiro T, Naruse Y, Nogami A, Tada H, Yoshida K, Sekiguchi Y, Murakoshi N, Kato Y, Horigome H, Kawamura M, Horie M, Aonuma K
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Journal Title
Circulation Arrhythmia and Electrophysiology
Volume: 5
Issue: 1
DOI
Related Report
Peer Reviewed
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[Presentation] A nationwide questionnaire survey on clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal and neonatal life2013
Author(s)
Horigome H, Kato Y, Yoshinaga M, Sumitomo N, Ushinohama H, Iwamoto M, Takahashi K, Shiono J, Tauchi N, Izumida N, Nagashima M
Organizer
Heart Rhythm Society 2013
Place of Presentation
Denver, USA
Related Report
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[Presentation] Advancement of treatment in Catecholaminergic Polymorphic Ventricular tachycardia -multicenter Study in Japan2013
Author(s)
Sumitomo N, Shimizu W, Aragaki Y, Horigome H, Aonuma K, Sakurada H, Watanabe H, Nishizaki M, Kamakura S, Hiraoka M
Organizer
Heart Rhythm Society 2013
Place of Presentation
Denver, USA
Related Report
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