Table 1.
A simplified table for the diagnosis of Marfan syndrome based on the revised Ghent criteria*
Criteria | Aortic dilation | Ectopia lentis | Systemic features | Family history | FBN1 mutation |
---|---|---|---|---|---|
Aortic dilation | - | MFS | MFS | MFS | MFS |
Ectopia lentis | MFS | - | - | MFS | MFS*; |
Systemic features | MFS | - | - | MFS | - |
Family history | MFS | MFS | MFS | - | - |
FBN1 mutation | MFS | MFS ‡ | - | - | - |
Some combinations of at least two features out of 5 confirm the diagnosis (marked by MFS). See text for more explanation
Only FBN1 mutations with known risk for aortic dissection are acceptable