Diagnosis through forensic autopsy and postmortem genetic testing in a teenage boy with vascular Ehlers-Danlos syndrome

Abstract

Vascular Ehlers-Danlos syndrome (vEDS) is a hereditary connective tissue disorder characterized by tissue fragilities and potentially fatal arterial complications. Common manifestations in childhood include easy bruising, thin translucent skin, and hypermobility of small joints. The diagnosis could first be suspected after arterial complications or even be confirmed postmortem. We report on a 17-year-old boy with vEDS who died suddenly from acute aortic dissection and was diagnosed through forensic autopsy and postmortem genetic testing.

Forensic autopsy showed skin fragilities and an abdominal aortic dissection resulting in massive intraabdominal and retroperitoneal hematomas. Postmortem next-generation sequencing panel analysis identified a likely pathogenic variant in COL3A1 according to the ACMG/AMP guidelines. Although he had a history of skin fragility in childhood, no hereditary disorder was suspected before the arterial event.

Postmortem genetic testing in vEDS, in which sudden death may occur, is a meaningful approach that supports the understanding and acceptance of bereaved families, conduces to the diagnosis of at-risk relatives result in the prevention of sudden death, and contributes to the understanding of the natural history of vEDS.