Table 7a.

Revised Ghent criteria for diagnosing Marfan syndrome and related conditions

Criteria	Diagnosis
Family history of Marfan syndrome absent
AO (Z-score >2) and ectopia lentisa	Marfan syndrome
AO (Z-score >2) and FBN1 gene mutation	Marfan syndrome
AO (Z-score >2) and systemic scoreb >7a	Marfan syndrome
Ectopia lentis and FBN1 gene mutation with known AOc	Marfan syndrome
Ectopia lentis with or without systemic score >7b and FBN1 gene mutation Unknown with AOd or no FBN1 gene mutation	Ectopia lentis syndrome
AO (Z-score <2) and systemic scoreb >5, with at least one skeletal feature, without ectopia lentis	MASS
Mitral valve prolapse, AO (Z-score <2), and systemic scoreb <5, without ectopia lentis	Mitral valve prolapse syndrome
Family history of Marfan syndrome present
Ectopia lentis	Marfan syndrome
Systemic score>7a	Marfan syndrome
AO (Z-score >2) in patients aged >20 years, (Z-score >3) in patients aged <20 yearsa	Marfan syndrome

^aWithout discriminating features of Shprintzen–Goldberg syndrome, Loeys–Dietz syndrome, or vascular form of Ehlers–Danlos syndrome and after collagen biochemistry and TGFBR1 and 2 and COL3A1 gene testing, if indicated. ^bAs described in Table 7b. ^cFBN1 gene mutation that has been identified in a patient with aortic aneurysm. ^dFBN1 gene mutation that has not been associated with aortic root aneurysm/dissection. AO=aortic diameter at the sinuses of Valsalva with indicated Z-score or aortic root dissection; FBN1=fibrillin-1 gene; MASS=mitral valve prolapse, aorta root diameter at the upper limit of normal, striae, and skeletal features similar to Marfan syndrome