ArticleInterdisciplinary cardiovascular and thoracic surgery2023
Endovascular treatment of a ruptured aortic pseudoaneurysm and its complications in an 8-year-old child with Ehlers-Danlos syndrome type VI.
Article in Interdisciplinary cardiovascular and thoracic surgery, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 0 citations in OpenAlex.
- Between myopathy and mortality: Challenges in the diagnosis ofJournal of neuromuscular diseases · 2026Article
- Kyphoscoliotic Ehlers-Danlos syndrome due to a novel homozygous PLOD1 variant: severe vascular involvement and molecular diagnosis.BMC medical genomics · 2026Article
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4 authors at 1 institution in 1 country.
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Abstract
The procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) gene may affect arterial integrity through enzymatic roles and the modulation of vascular smooth muscle cells. We present a complicated vascular case of an 8-year-old male child with Ehlers-Danlos syndrome type VI. The patient was diagnosed with a ruptured pseudoaneurysm of the infrarenal abdominal aorta. Endovascular treatment was performed using a covered self-expandable endograft. However, complications arose at the vascular access sites during the procedure, highlighting arterial fragility. PLOD1 mutations can be associated with false abdominal aortic aneurysms or arterial fragility. Open repair poses a high risk for patients with Ehlers-Danlos syndrome. Although the long-term results are unknown, endovascular stent grafts may be a suitable option for emergency clinical scenarios such as ruptured abdominal aortic pseudoaneurysms.
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