Sudden death associated to vascular Ehlers–Danlos syndrome. A case report
2011; Elsevier BV; Volume: 13; Issue: 3 Linguagem: Inglês
10.1016/j.legalmed.2010.12.004
ISSN1873-4162
AutoresPhilippe Charlier, Dominique P. Germain, Xavier Jeunemaı̂tre, Stanislas Grassyn Delisle, Jean‐Claude Alvarez, Geoffroy Lorin de la Grandmaison,
Tópico(s)Peptidase Inhibition and Analysis
ResumoThis article describes the case of a sudden death in a 45-year-old female consecutive to acute and extensive arterial dissection in a context of Ehlers–Danlos syndrome type IV. The interest of this case report is that autopsy findings led to the suspicion of a clinical diagnosis prompting as carrying out a genetic testing which definitively confirms the diagnosis, opening the way to genetic council for family members. Criteria for this disease diagnosis and full methodology are described, that may help forensic practitioners.
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