Development of the comprehensive system to investigate the cause of sudden cardiac death by integrating postmortem MRI and gene analysis

2021 Fiscal Year Final Research Report

• Project/Area Number: 20K18977
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 58040:Forensics medicine-related
• Research Institution: Gunma University
• Principal Investigator: Hayakawa Akira 群馬大学, 大学院医学系研究科, 助教 (90758575)
• Project Period (FY): 2020-04-01 – 2022-03-31
• Keywords: 心臓性突然死 / 死後MRI検査 / 遺伝子解析 / 法医学 / 法医診断学

Outline of Final Research Achievements

After the hearts extracted at the forensic autopsy were fixed in formalin, postmortem cardiac MRI examinations were performed using MRI scans at the affiliated hospitals. The most appropriate procedures for the examinations were established through trial-and-error in consultation and discussion with the radiologists and radiology technologists.
In addition to the findings of postmortem cardiac MRI, the result of postmortem CT scan and histopathological examination were discussed with the radiologists for each case, and these findings were summarized and accumulated for each case.
Furthermore, in cases where postmortem cardiac MRI was performed, DNA was extracted from the blood, and target gene sequencing involved in sudden cardiac death was performed using a next-generation sequencer. This analysis is currently in progress.

Free Research Field

法医学

Academic Significance and Societal Importance of the Research Achievements

死後CT検査（造影・非造影含む）、死後MRI検査、病理組織学的検査、遺伝学的検査を融合した、心臓性突然死の包括的な原因究明システムの構築は、心臓性突然死への原因究明を行う上でも欠かせないものである。
さらに、死後遺伝学的検査において、通常の末梢血DNAの網羅的遺伝子解析に加えて、異常心筋DNAを用いた遺伝子解析からモザイク変異の検出も試みることで、心臓性突然死事例の遺伝子異常に関する重要な知見を提供できる。