Table 3.
Main clinical characteristics of mutation negative and mutation positive patients
| Mutation negative a (N = 224) | Mutation positive (N = 34) | p-value | |
|---|---|---|---|
| Age (years) | 41.8 (17.0) | 31.9 (19.5) | 0.004 |
| Female gender | 63/224 | 17/34 | 0.01 |
| TAD | 199/224 | 29/34 | 0.55 |
| DAD | 52/224 | 5/34 | 0.27 |
| Family history for TAD | 52/179 | 15/28 | 0.01 |
| Systemic score | |||
| 1-2 | 47/164 | 3/33 | 0.018 |
| 3-6 | 45/164 | 9/33 | 0.98 |
| ≥7 | 13/164 | 10/33 | <0.001 |
| Mitral valve prolapse | 23/216 | 7/34 | 0.097 |
| Bifid uvula | 2/139 | 2/15 | 0.048 |
| Hypertelorism | 5/224 | 3/34 | 0.039 |
| Arterial tortuosity | 12/77 | 0/7 | 0.26 |
| Skin a/o facial features vEDS | 15/142 | 2/19 | 0.99 |
aPatients in whom a VUS was identified are not included in Table 3.
DAD: distal aneurysms a/o dissections; TAD: thoracic aortic disease; vEDS: vascular Ehlers-Danlos syndrome. Age is presented as mean with standard deviation in parentheses, the number of patients positive for the respective feature and the number of patients of whom clinical data was provided, is given.