Bilateral Anterior Tibial Artery Pseudoaneurysms Triggered by Minor Blunt Trauma as the Initial Presentation of Vascular Ehlers-Danlos Syndrome with a Whole-Exon Deletion

Résumé fourni par la source

Bilateral lower-limb arterial lesions after minor trauma are rare and suggestive of vascular Ehlers-Danlos syndrome (vEDS). A 40-year-old man developed bilateral anterior tibial artery (ATA) pseudoaneurysms after being kicked. The right limb, complicated by compartment syndrome, was treated by ATA ligation with aneurysm incision and hematoma evacuation; the left, by coil embolization. COL3A1 sequencing was negative, but multiplex ligation-dependent probe amplification revealed a monoallelic whole-exon deletion, confirming vEDS. Hybrid management is safe in vEDS, and copy-number analysis is essential when sequencing is negative but suspicion persists.

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