Table 5 Type of FBN-1 variant and phenotype in patients with diagnosis of MFS
From: The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome
Missense (n = 44) | Truncating (n = 35) | p | |
|---|---|---|---|
Mitral valve prolapse n (%) | 16 (36.4%) | 9 (25.7%) | 0.312 |
Ectopia lentis, n (%) | 25 (56.8%) | 3 (8.6%) | <0.001 |
Systemic ≥7, n (%) | 23 (54.1%) | 29 (82.9%) | 0.006 |
Family history, n (%) | 15 (34.1%) | 8 (22.9%) | 0.275 |
Aortic event, n (%) | 6 (13.6%) | 20 (57.1%) | <0.001 |
TA, n (%) | 5 (11.4%) | 13 (37.1%) | 0.007 |
TAAD, n (%) | 1 (2.3%) | 7 (20.0%) | 0.009 |