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Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by
Norimichi Koitabashi1, Tomomi Yamaguchi2,3, Daisuke Fukui4
1Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine.
Insights
Vascular Ehlers-Danlos syndrome (vEDS) can cause fatal arterial rupture during pregnancy. This case highlights successful diagnosis via next-generation sequencing and endovascular treatment for a life-threatening iliac artery aneurysm.
Area of Science:
- Genetics
- Vascular Surgery
- Obstetrics & Gynecology
Background:
- Vascular Ehlers-Danlos syndrome (vEDS), a genetic disorder stemming from COL3A1 mutations, presents significant risks of arterial fragility and rupture, particularly during the peripartum period.
- Management of vEDS requires careful consideration of vascular complications, especially in pregnant individuals.
Observation:
- A 25-year-old pregnant patient at 34 weeks experienced acute abdominal pain, later diagnosed with a dissecting left common iliac artery (CIA) aneurysm post-delivery.
- The patient developed hemorrhagic shock due to CIA rupture four days postpartum, despite initial medical management.
Findings:
- Next-generation sequencing (NGS) enabled rapid molecular diagnosis of vEDS (splice-site mutation) in an emergent setting, even without a family history.
- Successful endovascular therapy was performed for the CIA aneurysm after prompt NGS-based diagnosis.
Implications:
- This case demonstrates the critical role of urgent NGS in diagnosing vEDS during severe vascular emergencies.
- Early molecular diagnosis facilitates timely and appropriate management of life-threatening vascular complications in vEDS patients, improving outcomes.
Abstract:
Vascular Ehlers-Danlos syndrome (vEDS), a genetic disorder caused by mutations in procollagen type III gene (COL3A1), may lead to fatal vascular complication during peripartum period because of the arterial fragility. We experienced a case of vEDS with peripartum life-threatening arterial rapture diagnosed by next-generation sequencing (NGS) and successfully treated the vascular complications. A 25-year-old female in pregnancy at 34 weeks had sudden and acute pain in the left lower abdomen. After successful delivery, her computed tomography scan showed a dissecting aneurysm of the left common iliac artery (CIA). Four days after delivery, she presented in hemorrhagic shock induced by arterial rupture in the CIA. Since her clinical presentations inferred vEDS even in the absence of familial history, we performed NGS-based genetic screening for inherited connective tissue disorders including vEDS with informed consent. Even though we started intensive medication, her iliac aneurysm was progressively enlarging within 3 weeks. After an urgent molecular diagnosis for vEDS (a splice-site mutation), cautious endovascular therapy for her CIA aneurysm was successfully performed. This is the first report for pretreatment molecular diagnosis of vEDS using NGS in an emergent situation of severe vascular complications.
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