title: A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm.
abstract: Loeys-Dietz syndrome (LDS) is characterised by a mutation in the transforming growth factor beta receptor, and is strongly associated with aortic aneurysms and rupture. Most cases of LDS present in the second decade of life, with the average life expectancy being 37 years. We report a case of suspected LDS (owing to significant family history of the disorder) that presented in the seventh decade of life. Our patient had aortic root dilation and was initially believed to have Marfan syndrome. However, subsequent tests were negative. On further investigation of her family history, it was revealed that she had a strong positive family history of aortic rupture and aneurysms associated with genetically confirmed atypical LDS. By reporting this case, we aim to highlight the importance of considering inherited connective tissue disorders when a patient presents with aortic aneurysms or dissections associated with a strong family history of aortic pathology.
authors.affiliation: Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust , UK.
authors.forename: A
authors.initials: A
authors.lastname: Harky
authors.affiliation: Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust , UK.
authors.forename: M
authors.initials: M
authors.lastname: Garner
authors.forename: N
authors.initials: N
authors.lastname: Roberts
mesh_terms: D017668:Age of Onset; D000368:Aged; D017545:Aortic Aneurysm, Thoracic / Q000000981:diagnostic imaging* / Q000209:etiology / Q000601:surgery; D001022:Aortic Valve Insufficiency / Q000000981:diagnostic imaging* / Q000209:etiology / Q000601:surgery; D001807:Blood Vessel Prosthesis; D019917:Blood Vessel Prosthesis Implantation; D000072226:Computed Tomography Angiography; D017023:Coronary Angiography; D004453:Echoencephalography; D005260:Female; D019918:Heart Valve Prosthesis Implantation; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009154:Mutation; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics
chemical_list: D018125:Receptors, Transforming Growth Factor beta
keywords: Aortic dissection; Aortic root aneurysm; Dietz syndrome; Loeys