Table 3.

Revised Ghent criteria for diagnosing Marfan syndrome

In absence of a family history:

(1) Z -score for the aortic diameter at the sinuses of valva ≥ 2 or aortic root dissection AND ectopia lentis

(2) Z -score for the aortic diameter at the sinuses of valva ≥ 2 or aortic root dissection AND fibrillin-1 mutation

(3) Z -score for the aortic diameter at the sinuses of valva ≥ 2 or aortic root dissection AND Systemic score ≥7*

(4) ectopia lentis AND fibrillin-1 mutation AND aortic aneurysm

In the presence of a family history:

(5) ectopia lentis AND family history of Marfan syndrome (see 1–4)

(6) Systemic score ≥7 AND family history of Marfan syndrome (see 1–4)*

(7) Z -score for the aortic diameter at the sinuses of valva ≥ 2 (above 20 years old) or ≥3 in those below 20 years old) AND family history of Marfan syndrome*

*In the absence of discriminating features other syndromes.

Systemic score

• Wrist AND thumb sign – 3 (Wrist OR thumb sign – 1)

• Pectus carinatum deformity – 2 (pectus excavatum or chest asymmetry – 1)

• Hind foot deformity – 2 (plain pes planus – 1)

• Pneumothorax – 2

• Dural ectasia – 2

• Protrusio acetabuli – 2

• Reduced US/LS AND increased arm/height AND no severe scoliosis – 1

• Scoliosis or thoracolumbar kyphosis – 1

• Reduced elbow extension – 1

• Facial features (3/5) – 1 (dolichocephaly, enophtalmos, downslanting palpebral fissures, malar hyoplasia, retrognathia)

• Skin striae – 1

• Myopia >3 diopters – 1

• Mitral valve prolapse (all types) – 1

Maximum total: 20 points; score ≥7 indicates systemic involvement