| [Secondary publication] Sudden Aortic Rupture in Ehlers-Danlos Syndrome Type IV. |
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Taehwa Baek, Minjung Kim, Chang Seok Ki, Seong Hwan Park, Heon Lee, Kyung Ryoul Kim, Byung Ha Choi |
1Medical Examiner's Office, National Forensic Service, Wonju, Korea. lillu79@korea.kr
2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
3Department of Forensic Medicine, Korea University College of Medicine, Seoul, Korea.
4Department of Radiology, Soonchunhyang University Hospital, Bucheon, Korea. |
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| Abstract |
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Ehlers-Danlos syndrome type IV (EDS IV) is a hereditary disorder of the connective tissue, characterized by easy bruising, thin skin with visible veins, and spontaneous rupture of the large arteries, uterus, or bowel. EDS IV is caused by mutations of the gene for type III procollagen (COL3A1), resulting in insufficient collagen production or a defect in the structure of collagen. EDS IV can have fatal complications such as the rupture of great vessels or organs, which can cause hemorrhaging and sudden unexpected death. Here, we report a case of a 43-year-old female who collapsed after a struggle with a neighbor. In this patient, the bifurcation of the bilateral common iliac artery ruptured, with no evidence of trauma, inflammation, or atherosclerosis. Genetic analysis of COL3A1 showed the presence of a c.2771G>A (p.Gly924Arg) mutation, which may be associated with EDS IV. The forensic pathologist should consider the possibility that the spontaneous visceral or arterial rupture was caused by EDS IV. Genetic analysis is not currently a routine procedure during autopsy. However, in this case, we suggest that the patient possibly had an underlying EDS IV condition, and we recommended family members of the deceased to seek genetic analysis and counseling. |
| Key Words:
Ehlers-Danlos syndrome type IV, Aortic rupture, Autopsy |
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