title: Treatment of a patient with vertebral and subclavian aneurysms in the setting of a TGFBR2 mutation.
abstract: We present the case of a patient diagnosed with hypermobile Ehlers-Danlos syndrome with aneurysms of the subclavian and vertebral arteries. Molecular testing demonstrated transforming growth factor-beta receptor type 2 mutation. She was not a candidate for an open repair; therefore, a hybrid approach involving right vertebral ligation and bypass from the right common carotid to the vertebral C1-2 interface, endovascular exclusion of the left vertebral artery, and stent grafting of the left subclavian/axillary artery was used. The left vertebral embolization proved ineffective, requiring a right-to-left vertebral catheterization with glue occlusion. Based on her proper molecular diagnosis, she underwent prophylactic root and ascending aortic repair.
authors: Department of Vascular and Endovascular Surgery, Cleveland Clinic Foundation, Cleveland, OH, USA.
authors: Joshua
authors: J
authors: Sylvan
authors: Roy K
authors: RK
authors: Greenberg
authors: Tara M
authors: TM
authors: Mastracci
authors: Matthew J
authors: MJ
authors: Eagleton
authors: Rocio
authors: R
authors: Moran
mesh_terms: D000328:Adult; D000783:Aneurysm / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D019917:Blood Vessel Prosthesis Implantation; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D004621:Embolization, Therapeutic; D057510:Endovascular Procedures; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008026:Ligation; D009154:Mutation; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D012501:Saphenous Vein / Q000637:transplantation; D013348:Subclavian Artery / Q000000981:diagnostic imaging / Q000601:surgery*; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014711:Vertebral Artery / Q000000981:diagnostic imaging / Q000601:surgery*
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II