title: Sudden death associated to vascular Ehlers-Danlos syndrome. A case report.
abstract: This 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.
authors.affiliation: Department of Forensic Medicine and Pathology, University Hospital R. Poincaré (AP-HP, UVSQ), 104 R. Poincaré Boulevard, F-92380 Garches, France. ph_charlier@yahoo.fr
authors.forename: Philippe
authors.initials: P
authors.lastname: Charlier
authors.forename: Dominique P
authors.initials: DP
authors.lastname: Germain
authors.forename: Xavier
authors.initials: X
authors.lastname: Jeunemaître
authors.forename: Stanislas
authors.initials: S
authors.lastname: Grassin-Delyle
authors.forename: Stanislas Grassyn
authors.initials: SG
authors.lastname: Delisle
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Alvarez
authors.forename: Geoffroy Lorin
authors.initials: GL
authors.lastname: de la Grandmaison
mesh_terms: D001158:Arteries / Q000503:physiopathology; D003645:Death, Sudden / Q000209:etiology*; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000150:complications* / Q000473:pathology*; D005260:Female; D049429:Forensic Pathology; D005817:Genetic Counseling; D006801:Humans; D008875:Middle Aged; D014652:Vascular Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology