Total aortic replacement in Loeys-Dietz syndrome.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19463636.
- Also identified by DOI 10.1016/j.athoracsur.2008.10.049.
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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.
Medical subject headings
- Aortic Aneurysm
- Aortic Valve
- Cleft Palate
- Heart Valve Diseases
- Hypertelorism
- Uvula