From: The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome
<18 years (n = 21) | ≥18 years (n = 69) | All (n = 90) | |
---|---|---|---|
Age, years | 9 ± 4.46 | 39.6 ± 11.45 | 31.44 ± 16.92 |
Sex (female) | 7 (33.3%) | 33 (47.8%) | 40 (44.4%) |
Height, cm | 141.85 ± 29.95 | 178.6 ± 24.14 | 167.3 ± 30.99 |
Weight, kg | 40.02 ± 25.01 | 84.92 ± 27.37 | 71.15 ± 33.71 |
FH aortic event/MFS | 5 (23.8%) | 20 (29%) | 25 (27.8%) |
Ectopia lentis | 13 (61.9%) | 22 (31.9%) | 35 (38.9%) |
Echocardiogram | 21 (100%) | 69 (100%) | 90 (100%) |
Aortic annulus, mm | 18.73 ± 3.55 | 22.26 ± 4.56 | 20.94 ± 4.52 |
Sinuses of Valsalva, mm | 30.09 ± 6.04 | 40.99 ± 5.93 | 37.51 ± 7.83 |
Sinotubular junction, mm | 24.58 ± 5.49 | 34.14 ± 4.72 | 29.71 ± 6.97 |
Ascending aorta, mm | 23.57 ± 6,46 | 34.03 ± 6,09 | 29.45 ± 8,1 |
AR (any grade) | 2 (9.5%) | 14 (20.3%) | 16 (17.8%) |
Mild AR (grade I) | 2 (9.5%) | 10 (14.5%) | 12 (13.3%) |
Moderate AR (grade II) | 0 (0%) | 4 (5.8%) | 4 (4.4%) |
Moderate to severe or severe AR (grades III-IV) | 0 (0%) | 0 (0%) | 0 (0%) |
MVP (any grade of MI) | 10 (47.6%) | 21 (30.4%) | 31 (34.4%) |
MVP – mild MI (grade I) | 6 (28.6%) | 16 (23.2%) | 22 (24.4%) |
MVP - Moderate MI (grade II) | 4 (19.1%) | 2 (2.9%) | 6 (6.7%) |
MVP - Moderate to severe MI (grade III) | 0 (0%) | 0 (0%) | 0 (0%) |
MVP – severe MI (grade IV) | 0 (0%) | 3 (4.3%) | 3 (3.3%) |
LVD (LVEF < 55%) | 0 (0%) | 2 (2.9%) | 2 (2.2%) |
Medical treatment | 11 (52.4%) | 58 (84.1%) | 69 (76.7%) |
ACE inhibitors/ARBs | 2 (9.5%) | 42 (60.9%) | 44 (48.9%) |
Beta blockers | 12 (57.1%) | 41 (59.4%) | 53 (58.9%) |
Surgical treatment | 0 (0%) | 27 (39.1%) | 27 (30%) |
Reason for surgical treatment | |||
TA | 0 (0%) | 17 (24.6%) | 17 (18.9%) |
TAAD | 0 (0%) | 7 (10.1%) | 7 (7.8%) |
MVP | 0 (0%) | 3 (4.3%) | 3 (3.3%) |
Type of surgical treatment | |||
Bono-Bentall | 0 (0%) | 11 (15.9%) | 11 (12.2%) |
Aortic valve-sparing | 0 (0%) | 15 (21.7%) | 15 (16.7%) |
Mitral valve replacement | 0 (0%) | 4 (5.8%) | 4 (4.4%) |
Modified Ghent criteria of MFS | 19 (90.5%) | 65 (94.2%) | 84 (93.3%) |
Follow-up, months | 26 ± 19.52 | 33.41 ± 26.61 | 31.43 ± 25.02 |
Death | 0 (0%) | 0 (0%) | 0 (0%) |