Clinical Diagnostic Criteria for Marfan Syndrome
Revised (2010) Ghent criteria
In the 2010 revised Ghent nosology for MFS, diagnosis of the syndrome is based on seven rules. In the absence of a family history, the following four criteria lead to the diagnosis of MFS:
- Aortic root dilatation Z score of 2 or greater and ectopia lentis
- Aortic root dilatation Z score of 2 or greater and identified FBN1 mutation
- Aortic root dilatation Z score of 2 or greater and systemic score of 7 or greater
- Ectopia lentis and FBN1 mutation with known aortic root dilatation
In the presence of a family history, the following three criteria lead to the diagnosis of MFS:
- Ectopia lentis and family history of MFS (as defined by rules 1-4)
- Systemic score of 7 or greater and family history of MFS (as defined by rules 1-4)
- Aortic root dilatation score of 2 or greater (in those aged ≥20 years) or 3 or greater (in those aged < 20 years) and family history of MFS (as defined by rules 1-4)
