Table 2.
Chest deformities and respiratory symptoms in patients with Marfan syndrome
| All patients (n = 55) | Mf group (n = 32) | Mfop group (n = 23) | p value Mf versus Mfop | |
|---|---|---|---|---|
| Chest deformities | ||||
| Pectus carinatum, n (%) | 24 (48) | 12 (38) | 12 (52) | n.s |
| Pectus excavatum, n (%) | 14 (28) | 6 (19) | 6 (26) | n.s |
| Scoliosis, n (%) | 36 (72) | 15 (47) | 21 (91) | < 0.01 |
| Asymmetric chest, n (%) | 19 (38) | 11 (34) | 8 (35) | n.s |
| Structural abnormalities of the lung | ||||
| Spontaneous pneumothorax, n (%) | 5 (10) | 3 (9) | 2 (9) | n.s |
| Apical blebs and bullae, n (%) | 4 (8) | 3 (9) | 1 (4) | n.s |
| Pleuropulmonary symptoms | ||||
| Cough, n (%) | 11 (20) | 5 (16) | 6 (26) | < 0.01 |
| Sputum, n (%) | 5 (9) | 1 (3) | 4 (17) | n.s |
| Dyspnoea, n (%) | 10 (18) | 3 (9) | 7 (30) | < 0.01 |
| Chest pain, n (%) | 9 (16) | 2 (6) | 7 (30) | 0.03 |
| Ghent nosology, n (%) | ||||
| Dilatation of the ascending aorta | 38 (69) | 20 (61) | 18 (78) | n.s |
| Dissection of the ascending aorta | 7 (13) | 2 (7) | 5 (22) | n.s |
| Mitral valve prolapse | 48 (87) | 28 (87) | 20 (86) | n.s |
| Dilatation or dissection of descending aorta | 1 (2) | 0 (0) | 1 (6) | n.s |
| Reduced upper-to-lower segment ratio | 8 (14) | 5 (16) | 3 (12) | n.s |
| Increased arm span-to-height ratio | 8 (15) | 4 (14) | 4 (17) | n.s |
| Wrist sign | 47 (85) | 29 (90) | 18 (79) | n.s |
| Thumb sign | 51 (92) | 28 (86) | 23 (100) | n.s |
| Reduced extension at the elbows | 5 (9) | 1 (3) | 4 (18) | n.s |
| Medial displacement of the medial malleolus causing pes planus | 30 (55) | 16 (52) | 14 (61) | n.s |
| Heel deformity | 8 (15) | 5 (17) | 3 (12) | n.s |
| Protrusio acetabulae of any degree | 1 (2) | 1 (3) | 0 (0) | n.s |
| Joint hypermobility | 29 (52) | 17 (52) | 12 (53) | n.s |
| Highly arched palate with crowding of teeth | 35 (63) | 20 (62) | 15 (65) | n.s |
| Facial appearance | 35 (63) | 19 (59) | 16 (68) | n.s |
| Dolichocephaly | 11 (20) | 5 (17) | 6 (24) | n.s |
| Enophthalmos | 12 (22) | 7 (21) | 6 (24) | n.s |
| Downslanting palpebral fissures | 9 (17) | 7 (21) | 3 (12) | n.s |
| Malar hypoplasia | 8 (15) | 4 (14) | 4 (18) | n.s |
| Retrognathia | 17 (30) | 8 (24) | 9 (41) | n.s |
| Ectopia lentis | 15 (28) | 7 (23) | 8 (35) | n.s |
| Myopia over 3 diopters | 29 (52) | 16 (50) | 13 (56) | n.s |
| Increased axial length of the globe | 3 (6) | 2 (7) | 1 (6) | n.s |
| Hypoplastic iris or hypoplastic ciliary muscle causing decreased miosis | 1 (2) | 0 (3) | 0 (0) | n.s |
| Lumbosacral dural ectasia | 4 (7) | 4 (10) | 0 (0) | n.s |
| Striae atrophicae (stretch marks) | 36 (66) | 22 (69) | 14 (61) | n.s |
| Positive family history | 32 (58) | 18 (56) | 14 (60) | n.s |
| Sex (male) | 20 (36) | 11 (34) | 9 (39) | n.s |
| Systemic score | 8 ± 2 | 8 ± 2 | 8 ± 2 | n.s |
| FBN1 mutation identified | 40 (73) | 21 (62) | 19 (84) | n.s |
FBN1 Fibrillin 1