| |
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.