Comprehensive cardiac search with postmortem MRI and genetic analysis to determine the cause of sudden cardiac death

2023 Fiscal Year Final Research Report

• Project/Area Number: 20K10550
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 58040:Forensics medicine-related
• Research Institution: Gunma University
• Principal Investigator: Tokue Hiroyuki 群馬大学, 医学部附属病院, 助教 (40612396)
• Co-Investigator(Kenkyū-buntansha): 小湊 慶彦 群馬大学, 大学院医学系研究科, 教授 (30205512)
• Project Period (FY): 2020-04-01 – 2024-03-31
• Keywords: オートプシー・イメージング / 死後心臓MRI / 心臓突然死

Outline of Final Research Achievements

After extracting the heart during forensic autopsy and fixing it in formalin, we conducted postmortem cardiac MRI examinations. We established a process for conducting optimal postmortem cardiac MRI examinations. For cases in which postmortem cardiac MRI examinations were performed, we were able to consider the findings of postmortem CT examinations and histopathological examinations in addition to the findings of postmortem cardiac MRI examinations for each case. In cases where postmortem cardiac MRI examinations were performed, we attempted to detect genetic mutations (mosaic mutations) in abnormal myocardium by performing comprehensive genetic analysis of DNA extracted from the myocardium at sites with abnormal findings, in addition to conventional genetic testing using peripheral blood DNA.

Free Research Field

放射線医学

Academic Significance and Societal Importance of the Research Achievements

これまで、一部の施設で行われてきた死後画像検査は、全身のCTやMRIを含むが、臓器別の詳細な検討は十分に行われていなかった。心臓突然死と遺伝子異常に関する報告は存在するが、死後心臓MRIを用いた研究はこれまでに行われたことはなかった。本研究を契機に、より多くの症例を蓄積し、心臓突然死と遺伝子異常に関する深い洞察を提供することができれば、心臓突然死のリスク予測や遺伝子に基づくカウンセリングにおいても画期的な進展となる可能性がある。