A Missed Zebra: A Case Report of the Postmortem Diagnosis of Vascular Ehlers-Danlos Syndrome (vEDS)

Summary: This case report discusses the postmortem diagnosis of vascular Ehlers-Danlos syndrome (vEDS) through genetic testing, emphasizing the importance of recognizing subtle clinical signs. The study highlights how autopsy can identify at-risk family members, as postmortem genetic testing revealed a COL3A1 mutation in a young man who died from a ruptured aneurysm. Family history was crucial, leading to genetic testing and surveillance for relatives. This case underscores the potential of postmortem genetic testing in uncovering inherited disorders and preventing future cases within families.