Table1.
Demographic and clinical characteristics of the studied BAV and MFS patients
| FBN1 | BAV N = 98 | MFS N = 84 | P value BAV vs MFS |
|---|---|---|---|
| Age, years | 42 (18–72) | 43 (18–69) | 0.109 |
| Sex Male, n (%) | 70 (71.4) | 65 (77.4) | 0.360 |
| Height, cm | 176 (150–194) | 183 (149–205) | < 0.0001 |
| Weight, kg | 74 (46–112) | 75 (33–115) | 0.540 |
| Aortic root diameter, mm | 37.5 (26–53) | 42.0 (29–56) | < 0.0001 |
| Ascending aortic diameter, mm | 38.0 (22–53) | 32.0 (24–60) | 0.002 |
| ΔAR-AA, mm (IQR) | –0.6 (–5.9–3.0) | 9.0 (6.0–12.0) | < 0.0001 |
| ΔAR-AA > 5 mm, n (%) | 19 (19.4) | 77 (91.7) | < 0.0001 |
| Systemic features (SF) | |||
| Mitral valve prolapse* (MVP), n (%) | 28 (28.6) | 62 (73.8) | < 0.0001 |
| Dolicocephaly: face and/or neck, n (%) | 72 (73.4) | 48 (57.1) | 0.020 |
| Jaw ipo and/or retrognathic, n (%) | 76 (77.6) | 40 (47.6) | < 0.0001 |
| Pectus carinatum deformity*, n (%) | 20 (20.4) | 36 (42.9) | 0.001 |
| Pectus excavatum, n (%) | 31 (31.6) | 35 (41.7) | 0.160 |
| Kyphosis, n (%) | 30 (30.6) | 18 (21.4) | 0.161 |
| Scoliosis > 20°, n (%) | 10 (10.2) | 41 (48.8) | < 0.0001 |
| Reduced elbow extension, n (%) | 17 (17.3) | 30 (35.7) | 0.005 |
| Wrist and thumb sign†, n (%) | 3 (3.1) | 23 (27.4) | < 0.0001 |
| Plain pes planus, n (%) | 12 (12.2) | 41 (48.8) | < 0.0001 |
| Hindfoot deformities n (%) | 33 (33.6) | 31 (36.9) | 0.649 |
| Myopia > 3 diopters, n (%) | 14 (14.3) | 32 (38.1) | 0.0002 |
| Pneumothorax, n (%) | 3 (3.1) | 7 (8.3) | 0.119 |
| Striae, n (%) | 82 (83.7) | 69 (82.1) | 0.789 |
BAV bicuspid aortic valve; patients were all assessed according to Ghent-2 criteria (19), MFS Marfan syndrome, ΔAR-AA Delta Aortic Root—Ascending Aorta diameter, * of any kind, † thumb sign is positive when the entire nail of the thumb projects beyond the ulnar border of the hand which is clenched without any assistance, the wrist sign is positive when the thumb overlaps the terminal phalanx of the fifth digit when it grasps the contra-lateral wrist. **FBN1 gene analysis was performed in 60/98 BAV patients, all the ones which accepted to undergo mutation analysis. All patients (100%) turned out to be negative for FBN1 mutations. Among the other 38 patients, 19 had an aorta diameter with z-score < 2, 3 did not have aortic root ectasia, the remaining 16 had a systemic features’ score between 0 and 3 (11 patients), 4 and 5 (the remaining 5). Furthermore, these last patients did not have mitral valve prolapse or marphanoid aspect. Family history was negative for MFS (data not shown). The results were expressed as median and range or interquartile range (IQR) for continuous variables or percentages for categorical variables. Medians were compared by Mann–Whitney test and categorical variables were analysed by the chi-square test by SPSS package v19 (SPSS Inc., Chicago, IL, USA)