Table 3.
Comparison of aortic disease presentation among individuals with FBN1, TGFBR2, and ACTA2 mutations.
Variable | FBN1 | TGFBR2 | ACTA2 |
---|---|---|---|
Number of individuals | 243 | 71 | 277 |
Mean age | 30±16 | 29±17 | 38±20 |
Number of probands | 122 | 26 | 81 |
Percent of probands ascertained due to TAAD | 36% | 65% | 84% |
With aortic event* | 74 (30%) | 25 (35%) | 132 (48%) |
Thoracic aortic dissection | 31 (42%) | 13 (52%) | 116 (88%) |
Type A | 23 (31%); 39±9 | 10 (40%); 38±12 | 71 (54%); 36±12 |
Type B | 8 (11%); 44±10 | 3 (12%); 34±6 | 28 (21%); 29±12 |
Aneurysm repair | 43 (58%); 39±13 | 12 (48%); 35±16 | 16 (12%); 33±18 |
Without aortic event | 169 (70%) | 46 (65%) | 145 (52%) |
Ascending aortic aneurysm | 135 (80%) | 42 (91%) | 25 (17%) |
Frequency of aortic event or diagnosis and mean age ± standard deviation are provided.