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. 2024 May 3;183(8):3219–3232. doi: 10.1007/s00431-024-05579-3

Table 3.

Clinical conditions related to the Ghent criteria

Criteria 1 Criteria 2 n Explanation
Family history Systemic score < 5 2 FBN1 negative
MVP, AD Z-score < 2 Systemic score ≥ 5, skeletal findng, FBN1 ( −) 18 MVPS
FBN1(+) Systemic score < 5 5 Unidentified

Ectopia lentis

Systemic score < 7

FBN1 (−)

FBN1 unrelated cardiac finding

2 Ectopia lentis syndrome
Systemic score < 5 Marfanoid habitus accompanying tall stature 61 Screening for Marfan syndrome suspicion
Total 88

FBN1 positive but no Marfan syndrome diagnosis (n = 5)

FBN1 negative plus Marfan syndrome-related findings (n = 83)

FBN1 negative but Marfan syndrome diagnosis (n = 16)

AD aorta diameter, MVPS mitral valve prolapse syndrome