Table 1. Cohort description and TAA severity groups.
| Entire cohort, N (%) | Severe TAA (n=15) | No/mild TAA (n=12) | P-value | |
|---|---|---|---|---|
| Age (y)† | 29 ± 16 | 25 ± 15 | 35 ± 16 | 0.10 |
|
| ||||
| Sex | 0.13 | |||
|
| ||||
| Male | 18 (67) | 12 (80) | 6 (50) | |
| Female | 9 (33) | 3 (20) | 6 (50) | |
| Clinical TAA genetic testing performed | 26 (96) | 15 (100) | 11 (92) | 0.44 |
|
| ||||
| Pathogenic mutation | ||||
|
| ||||
| Any TAA gene | 21 (78) | 11 (73) | 10 (83) | 0.66 |
| FBN1 | 11 (41) | 5 (33) | 6 (50) | 0.45 |
| TGFBR1 | 3 (11) | 2 (13) | 1 (8) | |
| TGFBR2 | 3 (11) | 2 (13) | 1 (8) | |
| TGFB2* | 1 (4) | 0 (0) | 1 (8) | |
| ACTA2 | 3 (11) | 2 (13) | 1 (8) | |
| Unknown | 6 (22) | 4 (27) | 2 (17) | |
|
| ||||
| Mitral valve prolapse | 1.0 | |||
|
| ||||
| Present | 8 (30) | 4 (27) | 4 (33) | |
| Absent | 19 (70) | 11 (73) | 8 (67) | |
|
| ||||
| Bicuspid aortic valve | 0.6 | |||
|
| ||||
| Present | 4 (15) | 3 (20) | 1 (8) | |
| Absent | 22 (81) | 11 (73) | 11 (92) | |
| Not reported | 1 (4) | 1 (7) | 0 (0) | |
|
| ||||
| Variant counts† | ||||
|
| ||||
| All variants | 6551 ± 148 | 6560 ± 157 | 6541 ± 141 | 0.75 |
| Rare variants | 331 ± 27 | 334 ± 18 | 328 ± 35 | 0.55 |
*
Identified with whole exome sequencing
†
Reported as mean ± standard deviation