Table 1.
Number | Gender | Age | Time course of the disease | Family history | Lens dislocation | Systemic score | Aortic diameter (mm) | Z-score | Dissection | Mutation gen |
---|---|---|---|---|---|---|---|---|---|---|
1 | F | 58 | 4 | + | − | 8/20 | 68 | + | FBN-1 and TGFBR2 negative | |
2 | F | 23 | 6 | + | − | 10/20 | 33 | No data | FBN-1 and TGFBR2 negative | |
3 | M | 12 | 9 | + | + | 9/20 | 32 | 3.79 | No data | FBN-1 positive, 42 exons |
4 | M | 10 | 6 | + | + | 10/20 | 35 | 4.7 | No data | FBN-1 positive, 14 exons |
5 | M | 57 | 12 | + | + | 7/20 | 70 | + | FBN-1 positive, 42 and 28 exons | |
6 | M | 57 | 4 | + | − | 9/20 | 58 | No data | FBN-1 negative and TGFBR2 | |
7 | M | 23 | 2 | − | + | 7/20 | 91 | + | FBN-1 positive, 28 exons | |
8 | M | 58 | 2 | − | + | 7/20 | 68 | + | — | |
9 | M | 28 | 6 | + | − | 9/20 | 70 | − | FBN-1 positive, 14 exons | |
10 | M | 37 | 3 | − | − | 7/20 | 55 | − | FBN-1 positive, 14 exons | |
11 | M | 46 | 20 | + | + | 7/20 | 80 | − | FBN-1 positive, 42 exons | |
12 | M | 32 | 13 | − | − | 9/20 | 38 | − | — | |
13 | M | 12 | 4 | + | − | 7/20 | 30 | 3.04 | − | TGFBR2 positive, 6 exons |
14 | F | 17 | 4 | + | − | 6/20 | 26 | 1.05 | − | TGFBR2 positive, 6 exons |
15 | F | 16 | 4 | + | − | 7/20 | 49 | 6.42 | − | TGFBR2 positive, 6 exons |
16 | M | 12 | 4 | + | − | 9/20 | 35 | 4.42 | − | FBN-1 and TGFBR2 negative |
17 | F | 22 | 4 | + | − | 7/20 | 57 | + | FBN-1 positive, 14 exons and positive TGFBR2, 6 exons |
F = female and M = male. Z-score was adjusting the measure aortic diameter age and weight.