Clinical characteristics of patients
| Familial patients (n=19 BAV, n=2 AS*) | Sporadic patients (n=381) | P value | ||
| Males, n (%) | 14 (67) | 277 (73) | 0.6165 | |
| Age at recruitment (median) | 40.2 | 52.1 | 0.0216 | |
| White ethnicity | 21 (100) | 300 (79) | 0.0111 | |
| Leaflet fusion pattern, n (%) | RL | 10 (52) | 231 (61) | 1.0 |
| RN | 2 (11) | 68 (18) | 0.7417 | |
| LN | 1 (5) | 12 (3) | 0.4188 | |
| NA | 6 (32) | 70 (18) | – | |
| TAA, n (%) | 11 (52) | 137 (36) | 0.1629 | |
| CoA, n (%) | 2 (10) | 57 (15) | 0.7521 | |
| VSD, n (%) | 1 (5) | 15 (4) | 0.5833 | |
P values calculated with the Fisher’s exact test for the comparison between categorical variables and with the Mann-Whitney U test for the group comparison of continuous variables.
*Two individuals diagnosed with aortic stenosis but carriers of pathogenic p.Tyr291*/c.873C>G NOTCH1 variant.
AS, aortic stenosis; BAV, bicuspid aortic valve; CoA, coarctation of aorta; LN, fusion of left-coronary and non-coronary cusps; NA, leaflet fusion pattern not available; RL, fusion of right-coronary and left-coronary cusp; RN, fusion of right-coronary and non-coronary cusps; TAA, thoracic aortic aneurysm; VSD, ventricular septal defect.