Aggressive clinical course of vascular Ehlers-Danlos syndrome with a novel COL3A1 variant

A woman in her early 20s with a history of delayed wound healing and tissue fragility during caesarean deliveries presented with acute back pain. CT showed right common iliac artery dissection and a retroperitoneal haematoma. The patient was managed conservatively. Eight months later, she presented with a carotid-cavernous sinus fistula caused by rupture of a dissecting aneurysm in the left internal carotid artery. Coil embolisation was performed. 41 months after the initial event, she developed right lower abdominal pain. CT showed right internal iliac artery dissection and haematoma enlargement. Coil embolisation was successfully performed. She was discharged on the seventh postoperative day, but died of sudden cardiac arrest the following day. Genetic testing revealed a novel COL3A1 variant (c.2337+2T>G), confirming the diagnosis of vascular Ehlers-Danlos syndrome. This novel splice-donor site variant was associated with three metachronous arterial dissection events over a 41-month period in a young individual.

• Publication year

  2025

• Venue

  BMJ Case Reports

• Publication date

  2025-11-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1136/bcr-2025-268094PMID 41218953
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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