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. 2013 Feb;23(1):113–117.

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