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Postmortem detection of COL gene family variants in two aortic dissection cases

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Abstract

Aortic dissection (AD) usually remains undiagnosed, but its manifestation is abrupt and is associated with high morbidity and poor prognosis, leading to sudden cardiac death. Variants in COL family genes are associated with AD. In case 1, a 32-year-old Chinese man was admitted to the hospital with complaints of abdominal pain and died on the next day. In case 2, a 36-year-old Chinese woman was admitted to the hospital because of waist pain and died the next afternoon. According to autopsy findings, the cause of death in both cases was an acute cardiac tamponade, which was attributed to AD rupture. Whole-exome sequencing was performed on the blood collected from the hearts of the two deceased patients. Positive variants in COL family genes were found in both cases, without positive variants in other AD-associated genes. In case 1, a novel, likely pathogenic, missense variant was identified in COL6A1. In case 2, we identified one novel, likely pathogenic, frameshift deletion in COL23A1 and one novel, likely pathogenic, missense mutation in COL1A2. Based on these two cases, physicians should consider the role and significance of COL family gene mutations in AD in young patients. Furthermore, molecular anatomy is clearly necessary and significant in cases of sudden cardiac death attributed to AD, particularly in younger individuals.

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Data availability

The datasets generated and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Funding

This work was supported by the Open Project of Shanghai Key Laboratory of Forensic Medicine (Academy of Forensic Science), Shanghai, China (grant number: KF1901).

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Authors and Affiliations

  1. Department of Forensic Medicine, Tongji Medical College of Huazhong University of Science and Technology, 13 Hangkong Road, Hankou, Wuhan, 430030, Hubei, People’s Republic of China

    Meichen Pan, Yuning Wang, Lianjie Li, Zehao Li, Shifan Wu & Qian Liu

  2. Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Shanghai, 200063, China

    Qian Liu

Authors
  1. Meichen Pan
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  2. Yuning Wang
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  3. Lianjie Li
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  4. Zehao Li
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  5. Shifan Wu
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  6. Qian Liu
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Contributions

Conceptualization: Meichen Pan and Qian Liu; Formal analysis and investigation: Yuning Wang, Lianjie Li, Zehao Li, and Shifan Wu; Writing-original draft preparation: Meichen Pan, Yuning Wang, Zehao Li, and Lianjie Li; Writing-review and editing: Meichen Pan, Shifan Wu, and Qian Liu; Supervision: Qian Liu.

Corresponding author

Correspondence to Qian Liu.

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All data and sample collections were handled in strict accordance with the ethical guidelines of the Tongji Medical College, Huazhong University of Science and Technology.

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Informed consent for publishing this scientific report was obtained from the legal relatives of the deceased patients.

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The authors declare no competing interests.

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Pan, M., Wang, Y., Li, L. et al. Postmortem detection of COL gene family variants in two aortic dissection cases. Int J Legal Med 136, 85–91 (2022). https://doi.org/10.1007/s00414-021-02605-z

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  • DOI: https://doi.org/10.1007/s00414-021-02605-z

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