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[Secondary publication] Sudden Aortic Rupture in Ehlers-Danlos Syndrome Type IV
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Taehwa Baek,1
Minjung Kim,1
Chang-Seok Ki,2
Seong Hwan Park,3
Heon Lee,4
Kyung Ryoul Kim,1
and Byung-Ha Choi1
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1Medical Examiner's Office, National Forensic Service, Wonju, Korea.
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2Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
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3Department of Forensic Medicine, Korea University College of Medicine, Seoul, Korea.
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4Department of Radiology, Soonchunhyang University Hospital, Bucheon, Korea.
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Correspondence to Minjung Kim. Medical Examiner's Office, National Forensic Service, 10 Ipchun-ro, Wonju 26460, Korea. Tel: +82-33-902-5214, Fax: +82-33-902-5911, Email: lillu79@korea.kr
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Received May 03, 2016; Revised May 12, 2016; Accepted May 20, 2016.
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This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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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.
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