Korean J Leg Med.  2016 May;40(2):61-64. 10.7580/kjlm.2016.40.2.61.

[Secondary publication] Sudden Aortic Rupture in Ehlers-Danlos Syndrome Type IV

• Baek T
• Kim M
• Ki CS
• Park SH
• Lee H
• Kim KR
• Choi BH

• KMID: 2165009
• DOI: http://doi.org/10.7580/kjlm.2016.40.2.61

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.

Keyword

Ehlers-Danlos syndrome type IV; Aortic rupture; Autopsy

MeSH Terms

Adult
Aortic Rupture*
Arteries
Atherosclerosis
Autopsy
Collagen
Collagen Type III
Connective Tissue
Counseling
Ehlers-Danlos Syndrome*
Female
Humans
Iliac Artery
Inflammation
Rupture
Rupture, Spontaneous
Skin
Uterus
Veins
Collagen
Collagen Type III