What is the clinical evidence from this study?

Study design: Case Report. Population: Vascular Ehlers-Danlos syndrome (vEDS) (n=1). Intervention: Postmortem genetic testing (PMGT).

What question did this study set out to answer?

To report a case of fatal aortic rupture at term pregnancy linked to undiagnosed vascular Ehlers-Danlos syndrome (vEDS).

May 9, 2026Open Access

Fatal Aortic Rupture at Term Pregnancy Caused by Vascular Ehlers–Danlos Syndrome Diagnosed by Postmortem Genetic Testing Using Formalin‐Fixed, Paraffin‐Embedded Tissue

Key Result

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.

Key Points

To report a case of fatal aortic rupture at term pregnancy linked to undiagnosed vascular Ehlers-Danlos syndrome (vEDS).
Postmortem genetic testing performed using formalin-fixed, paraffin-embedded liver tissue.
Histopathological analysis confirmed suspicions of vEDS.
Next-generation sequencing identified a pathogenic variant in COL3A1.
Autopsy findings confirmed aortic rupture as the cause of death.
Genetic testing revealed a pathogenic variant in COL3A1, confirming vEDS diagnosis.
Facilitated genetic counseling led to preventive management strategies for at-risk family members.

Study Design

Type

Case Report (n=1)

Structured PICO

Population

34-year-old pregnant woman at 39 weeks of gestation who experienced sudden abdominal pain and died shortly after delivery due to aortic rupture

Intervention

Next-generation sequencing-based postmortem genetic testing (PMGT) using formalin-fixed, paraffin-embedded liver tissue

Outcome

Identification of pathogenic variant in COL3A1

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.

Abstract

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.