Marfan syndrome
| Autor: | Filip M. Vanhoenacker, A. Snoeckx, M. Biervliet |
|---|---|
| Jazyk: | Dutch; Flemish |
| Rok vydání: | 2015 |
| Předmět: | |
| Zdroj: | Musculoskeletal imaging / Pope, Thomas [edit.]; et al. Imaging of the musculoskeletal system / Pope [edit.] Musculoskeletal imaging |
| Popis: | Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, involving the cardiovascular, ocular, and skeletal systems, as well as the lungs, dura, and skin. Cardiovascular complications, including aortic root dilatation, aortic dissection and rupture, mitral valve prolapse, mitral and/or aortic valve regurgitation, begin in the first or second decade of life. They are responsible for a reduction in life expectancy. For clinical diagnosis of the disease, major emphasis is placed on skeletal malformations, aortic root aneurysm/dissection, and ectopia lentis. A prominent role is also assigned to molecular genetic testing of FBN1 mutation. Scoring of systemic features, including involvement of the musculoskeletal system, according to the revised Ghent nosology for MFS, may add in the diagnosis. |
| Databáze: | OpenAIRE |
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