Table 1.
Clinical features of family members relative to the revised Ghent criteria for Marfan syndrome
| Revised Ghent criteria | I‐1 | I‐2 | II‐1 | III‐1 | II‐2 | III‐2 | II‐3 | II‐5 | II‐7 | III‐3 | III‐4 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| FBN1 mutation screening: | |||||||||||
| Y754C | + | − | + | + | + | + | + | + | + | + | + |
| M2273T | − | + | − | − | + | − | + | − | + | − | − |
| In the presence of a family history: | N/A | ||||||||||
| Ectopia lentis AND family history of MFS | + | + | + | + | + | + | + | + | + | + | |
| Systemic score (≥7 points)*AND FH of MFS | NK | – | – | – | – | – | – | + | – | – | |
| Aortic dilatation (Z ≥ 2 above 20 years old, ≥3 below 20 years) + family history of MFS | + | + | + | + | – | + | + | + | – | – | |
| In the absence of a family history: | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | |
| Aortic dilatation (Z ≥ 2) AND ectopia lentis | – | ||||||||||
| Aortic dilatation (Z ≥ 2) AND FBN1 | + | ||||||||||
| Aortic dilatation (Z ≥ 2) AND Systemic score (≥7 points)* | – | ||||||||||
| Ectopia lentis AND FBN1 with known aortic dilatation | – | ||||||||||
| *Systemic score | NK | ||||||||||
| Wrist AND thumb sign (3) (Wrist OR thumb sign (1)) | – | – | – | – | 3 | 3 | – | 3 | – | – | |
| Pectus carinatum deformity (2) (pectus excavatum or chest asymmetry (1)) | − | − | 2 | − | − | − | − | − | − | − | |
| Hindfoot deformity (2) (plain pes planus (1)) | − | − | − | − | − | − | 1 | 1 | − | − | |
| Pneumothorax (2) | − | − | − | − | 2 | − | 1 | − | − | ||
| Dural ectasia (2) | NP | NP | NP | NP | NP | NP | NP | NP | NP | NP | NP |
| Protrusio acetabuli (2) | NP | NP | NP | NP | NP | NP | NP | NP | NP | NP | NP |
| Reduced US/LS AND increased arm/height AND no severe scoliosis (1) | NP | 1 | − | 1 | 1 | − | − | 1 | − | − | |
| Scoliosis or thoracolumbar kyphosis (1) | − | 1 | − | − | − | − | 1 | − | − | − | |
| Reduced elbow extension (1) | NP | − | − | NP | 1 | − | − | 1 | − | − | |
| Facial features (3 of 5) (1) (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia) | − | − | − | 1 | − | − | − | − | − | − | |
| Skin striae (1) | − | − | − | − | − | − | − | − | − | − | |
| Myopia > 3 diopters (1) | + | − | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 |
| Mitral valve prolapse (all types) (1) | − | − | − | − | − | − | − | − | − | − | |
| Total score (maximum = 20) | NK | NK | 3 | 3 | 3 | 3 | 6 | 3 | 8 | 1 | 1 |
| Meets revised Ghent Diagnostic criteria for Marfan Syndrome | Yes | − | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Age aortic dilatation first detected | NK | 68 years | 43 years | 29 years (equivocal) | 28 years | N/A (normal at 39 years) | 20s | NK | 16 years | N/A (normal 11 years) | N/A (normal 8 years) |
| Age of aortic dissection or reparative surgery | N/A (died at 57 years of MI) | N/A | N/A | N/A | 41 years | N/A | 31 years | AVR aged 28 years; no aortic repair otherwise | 18 years | N/A | N/A |
Abbreviations: AVR, aortic valve replacement; FH, family history; LS, lower segment; MFS, Marfan syndrome; MI, myocardial infarction; NK, Not Known; NP, Not Performed; US, upper segment.