Table 1.
Comparison of the clinical features observed in patients with TGFB2 mutations and patients with TGFBR2, FBN1, or SMAD3 mutations.
| Feature | Frequency, no. individuals/total (%)a | |||
|---|---|---|---|---|
| TGFB2 | TGFBR2 | FBN1 | SMAD3 | |
| Cardiovascular: | ||||
| Aortic root aneurysm | 14/19 (74) | 54/69 (78) | 178/226 (79) | 28/39 (72) |
| Aortic dissection | 3/23 (13) | 10/71 (14) | 23/243 (10) | 13/39 (33) |
| Cerebrovascular disease | 3/10 (30) | 0 b | 0 b | 6/16 (38) |
| Arterial tortuosity | 3/5 (60) | 5/25 (20) | NA | 8/16 (50)c |
| Mitral valve prolapse | 3/19 (16) | 15/66 (21) | 105/232 (45) | 18/36 (50)d |
| Skeletal: | ||||
| Pectus deformity | 7/16 (44) | 31/69 (45) | 144/243 (59) | 12/33 (36) |
| Arachnodoctyly | 8/13 (62) | 28/70 (41) | 137/240 (57) | 13/33 (39) |
| Spondylolisthesis | 1/7 (14) | 5/47 (11) | 15/223 (7) | 10/26 (38) |
| Scoliosis | 4/15 (27) | 21/68 (31) | 122/240 (51) | 22/36 (61) |
| Flat feet | 11/15 (73) | 8/58 (14) | 108/243 (44) | 30/33 (91) |
| Protrusio acetabularis | 1/8 (12) | 3/47 (6) | 79/221 (36) | 7/20 (35) |
| Joint hyperflexibility | 10/15 (67) | 45/59 (76) | 168/243 (69) | 3/31 (10) |
| High arched palate | 9/15 (60) | 32/67 (48) | 151/243 (62) | 15/28 (54)d |
| Cutaneous: | ||||
| Striae atrophicae | 8/15 (53) | 24/66 (36) | 139/241 (58) | 17/32 (53) |
| Operated hernia | 6/17 (35) | 13/67(19) e | 40/239 (17)e | 17/40 (43) |
| Pulmonary: | ||||
| Pneumothorax | 1/17 (6) | 3/69 (4) | 10/240 (4) | NA |
| Dural ectasia | 3/5 (60) | 4/40 (10) | 64/220 (29) | NA |
a
The frequency of clinical features associated with TGFBR2, FBN1 and SMAD3 are based on previous publications 11, 17, 22. Provided are the number of individuals with the feature/total number of individuals assessed for the particular feature (percentage);
b
based on medical history (imaging to screen for asymptomatic vascular disease not done);
c
number of patients with tortuosity of the cerebral arteries;
d
designated in publication as abnormal palate;
e
number of individuals with recurrent hernias;
NA- data not available.