Thoracic endografting in a patient with hereditary hemorrhagic telangiectasia presenting with a descending thoracic aneurysm.
A 53-year-old woman with no classic risk factors for aneurysm disease presented with the sudden onset of chest pain and dyspnea. A large descending thoracic aortic aneurysm with focal type B dissection was identified and excluded by emergency thoracic endografting. Further postoperative evaluation revealed a history of epistaxis, perioral telangiectasias, hepatic hypervascularity, and a mutation in the gene expressing activin receptor-like kinase 1 (ALK1), leading to a diagnosis of hereditary hemorrhagic telangiectasia. Aortic aneurysms associated with hereditary hemorrhagic telangiectasia are extremely rare, and to our knowledge, this is the first report of thoracic endografting in this patient population.
Andersen
Nicholas D
ND
Department of Surgery, Division of Thoracic and Cardiovascular Surgery, Duke University Medical Center, Durham, NC 27710, USA.
Dubose
John
J
Shah
Ankoor
A
Lee
Teng
T
Wechsler
Stephanie B
SB
Hughes
G Chad
GC
D030301:Activin Receptors, Type II; D000784:Aortic Dissection / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D017545:Aortic Aneurysm, Thoracic / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D001027:Aortography / Q000379:methods; D019917:Blood Vessel Prosthesis Implantation; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II