Revised Ghent Criteria for Diagnosis of Marfan syndrome

What are the revised Ghent criteria for the diagnosis of Marfan syndrome (MFS)?

MFS has an incidence of 1 in 3000 to 5000. The diagnosis can be difficult due to the multiple clinical manifestations. Diagnostic criteria have been established to help make a diagnosis. These criteria also call upon the clinician to rule out competing diagnoses such as Loey–Dietz syndrome, vascular EDS, and Shprintzen–Goldberg syndrome; therefore referral to a medical geneticist should be considered.

Revised Ghent Criteria for Diagnosis of MFS

In the Absence of a Family History, Any One of the Following Gives the Diagnosis of MFS

Aortic root dilation a and/or dissection + ectopia lentis (bilateral upward)

Aortic root dilation a and/or dissection + fibrillin-1 gene (FBN1) mutation

Ectopia lentis and FBN1 mutation known to predispose to aortic root aneurysm/dissection

Aortic root dilation a and evidence of systemic features (≥ 7 out of 20 points b )

If a Family History of Mfs in a First-Degree Relative, Any One of the Following Gives the Diagnosis of MFS

Ectopia lentis

Systemic features (≥7 points)

Aortic root dilation a and/or dissection

a Dilation = aortic root diameter with Z-score ≥ 2 (calculators available on www.marfan.org )

b Systemic features include wrist and thumb sign (3 points); wrist or thumb sign (1 point); pectus deformity, carinatum (2 points) or excavatum (1 point) or chest asymmetry (1 point); hindfoot deformity (2 points); pes planus (1 point); pneumothorax (2 points); dural ectasia (2 points); protrusio acetabuli (2 points); reduced upper segment/lower segment ratio (<0.85) and increased arm span/height (>1.05) (1point); scoliosis or thoracolumbar kyphoscoliosis (1 point); reduced elbow extension <170 degrees (1 point); facial features (1 point); skin striae (1 point); myopia > 3 diopters (1 point); mitral valve prolapse (1 point).