Ruptured brachial artery aneurysm in a patient with type 1 neurofibromatosis

Abstract

Vascular lesions associated with neurofibromatosis type 1 (NF1) are rare but can lead to catastrophic complications if disrupted. Ruptured aneurysms in NF1 patients are difficult to treat surgically because of vascular wall fragility. We describe a female NF1 patient with a ruptured aneurysm of her brachial artery. This is the first published case of successful reconstruction of a ruptured brachial aneurysm associated with NF1, using a saphenous vein graft.

Successful Repair of a Vasculopathic Aneurysmal Brachial Artery in a Patient with Type 1 Neurofibromatosis

“…Although some authors successfully recreated a vascular conduit using vein graft, many others reported failed reconstruction or adopted salvage procedures such as simple ligation and resection with high mortality and morbidity. 8,10,14,15 Emori et al 10 reported a case series of three ruptured aneurysms of the brachial artery that developed in patients with NF1 treated by surgical revascularization. Unfortunately, the outcome was extremely poor with two deaths and one requiring transhumeral amputation due to unsuccessful repair of the brachial artery.…”

“…Consequently, because of the extreme vessel wall fragility and the difficulties in obtaining haemostasis, surgical treatment of ruptured aneurysms in NF1 is technically demanding. 10 As a result, very little is known about the natural history of the peripheral arterial aneurysms associated with NF1 and the optimal management in such cases. 2 Some investigators recommend that a NF1 related aneurysm might be better treated by an endovascular approach (including stenting or embolization) or a hybrid procedure, rather than by surgery alone, providing the distal circulation is preserved.…”

“…It is controversial whether routine screening for vasculopathy is indicated in asymptomatic patients with NF1 because of its low incidence. 10 However, if there is clinical suspicion of vasculopathy, selective imaging (magnetic resonance angiography or computer tomography angiography) of the head, chest and abdomen is justifiable because of the multiplicity of lesions in some patients. 2 Our patient had not been previously screened for vasculopathy, and the preoperatively vascular assessment of our patient did not reveal any additional vascular abnormalities.…”

“…Despite its rarity, NF1 associated peripheral vasculopathy may have significant clinical sequelae including fatal hemorrhage resulting from aneurysmal rupture. 8,[10][11][12][13][14] Surgical treatment of these aneurysms may prove challenging due to the friable nature of the soft tissues of patients having NF1. 8,10,14,15 Consequently, the few cases reported in the literature are associated with relatively high mortality and morbidity, including major amputations.…”

“…8,[10][11][12][13][14] Surgical treatment of these aneurysms may prove challenging due to the friable nature of the soft tissues of patients having NF1. 8,10,14,15 Consequently, the few cases reported in the literature are associated with relatively high mortality and morbidity, including major amputations. 8,14,15 We present a case of successful delayed repair of an aneurysmal brachial artery in a patient with NF1 presenting with rupture and massive hemorrhage, made more complex by multiple previous debulking and soft tissue reconstructive procedures around the rupture site.…”