Postmortem genetic testing using formalin-fixed, paraffin-embedded tissue confirmed a pathogenic COL3A1 variant causing fatal aortic rupture in a 34-year-old pregnant woman.
Case Report (n=1)
Postmortem genetic testing using formalin-fixed tissue can successfully diagnose underlying genetic causes of unexpected maternal death like vascular Ehlers-Danlos syndrome, enabling preventive care for relatives.
Vascular Ehlers-Danlos syndrome (vEDS) is a life-threatening connective tissue disorder that often remains undiagnosed before pregnancy and carries a markedly high risk of maternal mortality. We report the case of a 34-year-old pregnant woman who experienced sudden abdominal pain at 39 weeks of gestation and died shortly after delivery. Autopsy revealed an aortic rupture with histopathological findings suggestive of vEDS. Her family history included her father's sudden vascular death, and her personal history was notable for easy bruising and early-onset varicose veins. Next-generation sequencing-based postmortem genetic testing (PMGT) using formalin-fixed, paraffin-embedded liver tissue confirmed a pathogenic variant in COL3A1. This result facilitated genetic counseling for the family, allowing presymptomatic diagnosis and preventive management, including celiprolol therapy for at-risk relatives. This case underscores the value of PMGT in identifying the underlying cause of unexpected maternal death, particularly when conventional samples are unavailable.
Tadakawa et al. (2026) conducted a case report in Vascular Ehlers-Danlos syndrome (vEDS) (n=1). Postmortem genetic testing (PMGT) was evaluated. Postmortem genetic testing using formalin-fixed, paraffin-embedded tissue confirmed a pathogenic COL3A1 variant causing fatal aortic rupture in a 34-year-old pregnant woman.