Table 1.
MFS characteristic frequencies according to the type of pathogenic FBN1 variant.
| Characteristic | Total | PTC | In-frame pathogenic variants | |||
|---|---|---|---|---|---|---|
| Total | (−Cys) | (+Cys) | (noCys) | |||
| Population N (%) | 1,575 (100) | 627 (40) | 948 (60) | 352 (37) | 114 (12) | 482 (51) |
| Age year, mean (SD) | 34.1 (17.8) | 32.3 (16.3) | 35.4 (18.7) | 33.0 (17.9) | 36.2 (20.0) | 36.9 (18.8) |
| Males, N (%) | 771 (49) | 312 (50) | 459 (48) | 165 (47) | 56 (49) | 238 (49) |
| Familial, N (%) | 1089 (69) | 406 (65) | 683 (72) | 210 (59) | 83 (73) | 390 (81) |
| Proband, N (%) | 815 (52) | 355 (57) | 460 (48) | 212 (60) | 53 (46) | 195 (40) |
| Cardiovascular | ||||||
| Aortic root diameter, mm, mean (SD) | 37.8 (6.7) | 37.8 (6.7) | 37.0 (6.7) | 37.3 (6.7) | 34.7 (6.9) | 37.2 (6.5) |
| Aortic dissection, N (%) | 139 (9) | 72 (11) | 67 (7) | 27 (8) | 6 (5) | 34 (7) |
| Preventive aortic surgery, N (%) | 316 (20) | 154 (25) | 162 (17) | 83 (24) | 5 (4) | 74 (15) |
| Mitral valve surgery, N (%) | 93 (6) | 41 (7) | 52 (5) | 21 (6) | 3 (3) | 28 (6) |
| Ophthalmologic | ||||||
| Ectopia lentis, N (%) | 896 (57) | 334 (53) | 562 (59) | 261 (74) | 78 (68) | 223 (46) |
| Ectopia lentis surgery, N (%) | 400 (25) | 83 (13) | 317 (33) | 151 (43) | 55 (48) | 111 (23) |
| Skeletal | ||||||
| Facial dysmorphia,a N (%) | 672 (43) | 306 (49) | 366 (39) | 169 (48) | 27 (24) | 170 (35) |
| Teeth, N (%) | 519 (33) | 227 (36) | 292 (31) | 129 (37) | 29 (25) | 134 (28) |
| Arched palate, N (%) | 991 (63) | 443 (71) | 548 (58) | 226 (64) | 56 (49) | 266 (55) |
| Pectus, N (%) | 725 (46) | 347 (55) | 376 (40) | 178 (50) | 20 (18) | 180 (37) |
| Arachnodactyly, N (%) | 609 (39) | 419 (67) | 432 (46) | 202 (57) | 67 (59) | 230 (48) |
| Elbow extension <170°, N (%) | 137 (9) | 45 (7) | 92 (10) | 43 (12) | 14 (12) | 35 (7) |
| Flat feet, N (%) | 619 (39) | 295 (47) | 324 (34) | 135 (38) | 21 (18) | 168 (35) |
| Hypermobility, N (%) | 74 (5) | 45 (7) | 29 (3) | 8 (2) | 1 (1) | 20 (4) |
| Scoliosis, N (%) | 712 (45) | 327 (52) | 385 (41) | 159 (45) | 18 (16) | 208 (43) |
| Spondylolisthesis, N (%) | 95 (6) | 44 (7) | 51 (5) | 21 (6) | 3 (3) | 27 (6) |
| Acetabular protrusion, N (%) | 417 (26) | 188 (30) | 229 (24) | 110 (31) | 17 (15) | 102 (21) |
| Other | ||||||
| Skin striae, N (%) | 1038 (66) | 459 (73) | 579 (61) | 325 (69) | 40 (35) | 304 (63) |
| Recurrent hernia, N (%) | 86 (5) | 44 (7) | 42 (4) | 17 (5) | 5 (4) | 20 (4) |
| Pneumothorax, N (%) | 108 (7) | 65 (10) | 43 (5) | 17 (5) | 3 (3) | 23 (5) |
| Dural ectasia, N (%) | 293 (19) | 151 (24) | 142 (15) | 67 (26) | 7 (6) | 68 (14) |
Percentage were rounded to the nearest whole number.
(−Cys) pathogenic variant associated with a cysteine loss, (+Cys) pathogenic variant with a cysteine addition, (noCys) pathogenic variant with no cysteine modification, MFS Marfan syndrome, PTC premature termination codon variants.
aFacial dysmorphia (3/5: dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia).