Table 2.
Overview clinical features per genotype
| MFS features | LDS features | vEDS | TAD | MVP | DAD | FH TAD | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| SS | EL | |||||||||
| SS1-2 | SS3-6 | SS ≥ 7 | ||||||||
| FBN1 (N = 12) | / | 5/11 | 3/11 | - | 1 | 1 | 10 | 3 | - | 4/8 |
| TGFBR1 (N = 1) | + | / | / | - | + | - | + | - | - | - |
| TGFBR2 (N = 2) | 1 | / | / | - | 1 | - | 1 | - | 1 | 1 |
| TGFB2 (N = 3) | / | 2 | 1 | - | - | - | 3 | 1 | 1 | 2 |
| SMAD3 (N = 9) | 1 | 2 | 6 | - | 1 | - | 8 | 3 | - | 6/8 |
| ACTA2 (N = 4) | / | / | / | - | - | 4 | - | 1 | 2/3 | |
| COL3A1 (N = 3) | - | - | 1 | 2 | - | 2 | - | |||
DAD: distal aneurysms a/o dissections; EL: ectopia lentis; FH TAD: positive family history for thoracic aneurysms and dissections; MVP: mitral valve prolapse; SS: systemic score; TAD: thoracic aneurysms and dissections. MFS (Marfan syndrome) features i.e. systemic features and/or ectopia lentis, LDS (Loeys-Dietz syndrome) features i.e. hypertelorism, bifid uvula and/or arterial tortuosity, vEDS (Ehlers-Danlos syndrome) features i.e. facial and/or skin features.
The number of patients of whom clinical data was provided is given whenever data regarding a specific features was not available for all patients.