Journal List > Korean J Leg Med > v.40(2) > 1087993

Korean J Leg Med. 2016 May;40(2):61-64. Korean.
Published online May 31, 2016.  https://doi.org/10.7580/kjlm.2016.40.2.61
© Copyright 2016 by the Korean Society for Legal Medicine
[Secondary publication] Sudden Aortic Rupture in Ehlers-Danlos Syndrome Type IV
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
1Medical Examiner's Office, National Forensic Service, Wonju, Korea.
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.

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
Received May 03, 2016; Revised May 12, 2016; Accepted May 20, 2016.

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.


Abstract

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.

Keywords: Ehlers-Danlos syndrome type IV; Aortic rupture; Autopsy

Figures


Fig. 1
The aorta ruptured at the iliac bifurcation site (arrow) and showed an irregularly disrupted margin.
Click for larger image


Fig. 2
Abdominal computed tomography image showing aortic rupture at the iliac bifurcation site (arrow).
Click for larger image

Tables


Table 1
Identified variation in COL3A1 gene mutation analysis
Click for larger image

Notes

Conflicts of Interest:No potential conflict of interest relevant to this article was reported.

References
1. Parapia LA, Jackson C. Ehlers-Danlos syndrome: a historical review. Br J Haematol 2008;141:32–35.
2. Germain DP. Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg 2002;16:391–397.
3. Pepin MG, Schwarze U, Rice KM, et al. Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genet Med 2014;16:881–888.
4. Germain DP. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis 2007;2:32.
5. Im JS, Lim YH, Park JS, et al. Rupture of abdominal aortic aneurysm after spine surgery in the patient with Ehlers-Danlos syndrome: a case report. Korean J Anesthesiol 2010;58:555–559.
6. de Paepe A. The Ehlers-Danlos syndrome: a heritable collagen disorder as cause of bleeding. Thromb Haemost 1996;75:379–386.
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