2022 Fiscal Year Final Research Report
Identification of Genetic Background in Sudden Cardiac Death using Artificial Intelligence (AI)
| Project/Area Number |
19K08505
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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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| Review Section |
Basic Section 53020:Cardiology-related
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| Research Institution | National Cardiovascular Center Research Institute |
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Principal Investigator |
AIBA TAKESHI 国立研究開発法人国立循環器病研究センター, 病院, 部長 (40574348)
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| Co-Investigator(Kenkyū-buntansha) |
高橋 篤 国立研究開発法人国立循環器病研究センター, 研究所, 部長 (50392014)
西村 邦宏 国立研究開発法人国立循環器病研究センター, 研究所, 部長 (70397834)
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| Project Period (FY) |
2019-04-01 – 2023-03-31
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| Keywords | 心臓突然死 / 心室細動 / 遺伝子 / 不整脈 / 心筋症 / イオンチャネル |
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| Outline of Final Research Achievements |
Genetic background of idiopathic ventricular fibrillation (IVF) is still controversial. Genetic testing in IVF therefore offers a modest but potentially significant diagnostic yield, identifying either rare monogenic causes of IVF or concealed arrhythmia syndromes where clinical evaluation has failed. In IVF patients, 15% had some pathogenic or likely pathogenic SNVs in genes associated with cardiovascular diseases, but many of these were not directly related to lethal ventricular arrhythmias but rather potential genes associated with cardiomyopathies and/or neuromuscular diseases. Future research should also be focused on identifying potential “polygenic” and nongenetic causes that likely underpin much of IVF.
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| Free Research Field |
循環器内科学
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| Academic Significance and Societal Importance of the Research Achievements |
突然の心室細動による心事故は若年者、働き盛りの成人に多いことから、社会や家族におよぼす影響は計り知れない。心臓突然死リスクの一つとして、遺伝学的異常を示すことで患者本人のみならず家族における突然死リスクを評価することが可能となる。特に若年における未診断あるいは原因不明の突然死を予防できることの社会的意義は大変大きい。
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