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marfan-syndrome
Marfan Syndrome
Marfan syndrome is caused by germline FBN1 mutations; aortic root dilation (risk of dissection), ectopia lentis, tall stature with long limbs and arachnodactyly; losartan and beta-blockers slow aortic growth; prophylactic aortic surgery when root diameter reaches 5.0 cm.
Entry Metadata
| Field | Value |
|---|---|
| ID | marfan-syndrome |
| Name | Marfan Syndrome |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
Sources
- Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352(6333):337-339. · PubMed 1852208
- Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476-485. · PubMed 20591885