Table 4 Revised Ghent Diagnostic Criteria for Marfan Syndrome [26]

Wrist AND thumb signs^#

3

Wrist OR thumb sign^#

1

Pectus carinatum deformity

2

Pectus excavatum or chest asymmetry

1

Hindfoot deformity

2

Plain pes planus

1

Pneumothorax

2

Dural ectasia

2

Protrusio acetabuli

2

Reduced upper segment/lower segment ratio AND increased arm/height AND no severe scoliosis

1

Scoliosis or thoracolumbar kyphosis

1

Reduced elbow extension

1

Facial features (3/5)

dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia

1

Skin striae

1

Myopia > 3 diopters

1

Mitral valve prolapse (all types)

1

Diagnostic criteria*

Family History Negative

Marfan Syndrome

Aortic diameter at the sinuses of Valsalva

≥ Z-score 2,

or aortic root dissection

+

Ectopia Lentis

FBN1

Systemic Features ≥ 7 points

Ectopia Lentis

+

FBN1 variant with known association with

aortic enlargement or dissection

Ectopia Lentis Syndrome

Ectopia Lentis

+

FBN1 variant without known association with aortic enlargement or dissection

+

Systemic Features

–

–

MASS

Aortic diameter at the sinuses of Valsalva < Z-score 2

+

Systemic Features

≥ 5 points (at least one skeletal feature)

–

Ectopia Lentis

MVPS

Mitral Valve Prolapse

+

Aortic diameter at the sinuses of Valsalva

< Z-score 2

+

Systemic Features < 5 points

–

Ectopia Lentis

Family History Positive

Marfan Syndrome

Positive Family History

+

Ectopia Lentis

Systemic Features ≥ 7 points

Aortic diameter at the sinuses of Valsalva

≥ Z-score 2, above age 20 years

Aortic diameter at the sinuses of Valsalva

≥ Z-score 3, below age 20 years