Vascular Ehlers-Danlos Syndrome Diagnosed after Cerebral Infarction with a Subarachnoid Hemorrhage
Year: 2026
Type: article
Study design: Case Report
Abstract: Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder characterized by either an arterial rupture or organ perforation, which is challenging to diagnose prior to the onset of major complications. A 46-year-old male presented with sudden severe headache and left hemiplegia. Magnetic resonance imaging (MRI) revealed simultaneous cerebral infarction and subarachnoid hemorrhage (SAH) due to middle cerebral artery (MCA) dissection. Genetic testing confirmed vEDS through identification of a pathogenic COL3A1 variant (c.2438G>A). Clinicians should consider vEDS in young patients demonstrating stroke with arterial dissection, especially in the presence of distinctive facial features or a relevant family history, even if the diagnostic criteria are not fully met.
Source: Internal Medicine
Authors: Tomohisa Yamaguchi, Masamichi Ikawa, Kazumi Ikeda, Ayumu Katsuki, Asako Ueno, Yasuhiro Nishiyama
Institutions: University of Fukui, Fukui-ken Saiseikai Hospital
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7160012734