Revised criteria for the diagnosis of Marfan syndrome were proposed in 2009. The authors are from multiple institutions in Europe and the United States.
Parameters:
(1) pathogenic variant of FBN1 (fibrillin-1, at 15q21.1)
(2) aortic root diameter based on the Z-score for age at the sinuses of Valsalva, or aortic root dissection
(3) ectopia lentis
(4) systemic score based on the spectrum of changes in the body
(5) family history of Marfan syndrome (with inheritance as autosomal dominant)
Age
Z score for aortic root diameter
< 20 years
>= 3.0
>= 20 years
>= 2.0
Criteria for the diagnosis of Marfan syndrome:
Family History
Other Findings
present
ectopia lentis
present
systemic score >= 7
present
Z-score positive
absent
ectopia lentis AND Z-score
absent
FBN1 AND Z score
absent
FBN1 AND systemic score >= 7
absent
FBN1 AND ectopia lentis AND aortic root dilation or dissection
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