title: Total aortic replacement in Loeys-Dietz syndrome.
abstract: Loeys-Dietz syndrome presents early in life with rapidly progressive aortic aneurysmal disease, hypertelorism, and bifid uvula/cleft palate. Genetic testing reveals transforming growth factor-beta 1 and 2 mutations. Patients require monitoring for progressive aneurysmal disease, and may need total aortic replacement. Two patients are presented who typify these concepts.
authors.affiliation: Centennial Medical Center and Vanderbilt University, Nashville, Tennessee, USA.
authors.forename: J Scott
authors.initials: JS
authors.lastname: Rankin
authors.forename: Alan C
authors.initials: AC
authors.lastname: Braverman
authors.forename: Nicholas T
authors.initials: NT
authors.lastname: Kouchoukos
mesh_terms: D000293:Adolescent; D001014:Aortic Aneurysm / Q000601:surgery*; D001021:Aortic Valve / Q000601:surgery*; D002972:Cleft Palate; D005260:Female; D006349:Heart Valve Diseases / Q000601:surgery*; D006801:Humans; D006972:Hypertelorism; D013577:Syndrome; D014609:Uvula / Q000002:abnormalities*; D055815:Young Adult