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