Endovascular Treatment of Direct Carotid-Cavernous Fistula in a Patient with Loeys-Dietz Syndrome

Abstract

Objective: Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by mutations in the genes encoding transforming growth factor β (TGF-β). LDS is often associated with arterial tortuosity, aortic aneurysm, hypertelorism, and bifid uvula. Patients with LDS are at increased risk for vascular events due to aortic or cerebral aneurysms. We present the 1st reported instance of a carotid-cavernous fistula (CCF) in a patient with LDS.

Case Presentation: A 50-year-old male with LDS due to a pathogenic TGFBR2 variant presented with a 9-month history of bilateral tinnitus, right-sided exophthalmos, and conjunctival chemosis. Imaging revealed a direct Barrow type A CCF between the ventral wall of the internal carotid artery and the right cavernous sinus. The patient underwent transarterial embolization of the CCF using coils and 1 vial of ethylene vinyl alcohol copolymer. Postoperatively, the patient showed marked clinical improvement, with the resolution of pulsatile tinnitus and a gradual reduction of right-sided exophthalmos.

Conclusion: This case illustrates the successful endovascular management of a direct carotid-cavernous fistula in a patient with LDS. Careful pre-interventional imaging to rule out aortic aneurysm and meticulous catheter handling are necessary to achieve successful embolization.