CHEST Guidelines-Subclavian-Artery-Branch-Pseudoaneurysm-Rupture-Wi

Subclavian-Artery-Branch-Pseudoaneurysm-Rupture-Wi

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A case study discusses a 33-year-old man with Neurofibromatosis Type 1 (NF-1), a genetic disorder caused by mutations in the NF1 tumor suppressor gene on chromosome 17. NF-1 is characterized by skin abnormalities, such as café-au-lait spots and neurofibromas, and can sometimes involve vascular complications like arterial stenosis and aneurysms. These vascular issues, while rare in NF-1 patients, can affect vessels ranging from the aorta to small arterioles.<br /><br />The patient presented with chest pain and was found to have a ruptured pseudoaneurysm from a branch of the left subclavian artery, leading to a massive hemothorax. Initial diagnostics showed no cardiac ischemia, but a CT angiogram revealed significant internal bleeding. After losing consciousness and presenting with hypotension, the patient underwent endovascular procedures, including stenting and subsequent embolization, to manage the bleeding. This intervention stabilized his condition, and after a 9-day hospital stay, he had no further complications.<br /><br />The report highlights that aneurysms in NF-1 patients often present with rupture, necessitating prompt recognition and treatment for successful outcomes. Vascular lesions in NF-1 may result from deficiencies in neurofibromin, affecting the blood vessels' structural integrity, potentially exacerbated by adjacent neurofibromatous tissue compressing large vessels. Though guidelines recommend some monitoring for NF-1 complications, screenings for vascular issues are not standard due to their rarity. This case serves to raise awareness of such potentially fatal complications in NF-1 patients, emphasizing the need for heightened vigilance and timely intervention.

Keywords

Neurofibromatosis Type 1

NF1 gene

vascular complications

pseudoaneurysm

hemothorax

endovascular procedures

neurofibromin

arterial stenosis

genetic disorder

vascular lesions