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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