Table 4.

The revised Ghent criteria for Marfan syndrome (adapted from Faivre L et al. [38])

In the absence of family history:

1. Aortic Root Dilatation Z score ≥ 2 AND Ectopia Lentis = Marfan syndrome.

2. Aortic Root Dilatation Z score ≥ 2 AND FBN1 mutations = Marfan syndrome.

3. Aortic Root Dilatation Z score ≥ 2 AND Systemic Score ≥ 7pts = Marfan syndrome.

4. Ectopia lentis AND FBN1 with known Aortic Root Dilatation = Marfan syndrome.

In the presence of family history:

1. Ectopia lentis AND Family History of Marfan syndrome (as defined above) = Marfan syndrome.

2. A systemic score ≥ 7 points AND Family History of Marfan syndrome (as defined above) = Marfan syndrome

3. Aortic Root Dilatation Z score ≥ 2 above 20 yrs. old, ≥ 3 below 20 yrs. old) + Family History of Marfan syndrome (as defined above) = Marfan syndrome.