Total aortic replacement in Loeys-Dietz syndrome.
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.
Rankin
J Scott
JS
Centennial Medical Center and Vanderbilt University, Nashville, Tennessee, USA.
Braverman
Alan C
AC
Kouchoukos
Nicholas T
NT
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