Criteria

Revised Ghent nosology for the Marfan syndrome[2]

An international expert panel has established a revised Ghent nosology that puts more weight on the cardiovascular manifestations (in particular, aortic root aneurysm) and ectopia lentis, which are the cardinal clinical features. The presence of these 2 features are sufficient for the unequivocal diagnosis of Marfan syndrome. In the absence of either of these 2, the presence of a bona fide fibrillin-1 (FBN1) mutation or a combination of systemic manifestations is required. These criteria may delay a definitive diagnosis of Marfan syndrome, but will decrease the risk of premature diagnosis or misdiagnosis and facilitate worldwide discussion of risk and management guidelines.[36][37]​ Dural ectasia is no longer a major finding as it is nonspecific and also found in Ehlers-Danlos syndrome.

In the absence of family history any of the following are sufficient for a definitive diagnosis of Marfan syndrome:

  • Aortic root ≥+2 z-score and ectopia lentis

  • Aortic root ≥+2 z-score and FBN1 mutation known to be associated with Marfan syndrome

  • Aortic root ≥+2 z-score and systemic score ≥7 (see below)

  • Ectopia lentis and FBN1 mutation known to be associated with Marfan syndrome

In the presence of family history, one of the following would meet the criteria for a diagnosis of Marfan syndrome:

  • Ectopia lentis

  • Systemic score ≥7

  • Aortic root ≥+3 z-score in those <20 years OR ≥ +2 z-score in those >20 years

Systemic features are scored as follows:

  • Wrist AND thumb sign = 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) = 1 (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia)

  • Skin striae = 1

  • Myopia >3 diopters = 1

  • Mitral valve prolapse (all types) = 1

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

A diagnosis of “potential Marfan syndrome” is given when there is a FBN1 pathogenic mutation not previously known to be associated with Marfan syndrome and aortic root with a z-score of <+3.[3]

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