Table 6 Characteristics of patients with MFS and aortic events compared to patients without aortic events
From: The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome
TA in surgical range (n = 20) | Aortic dissection (n = 8) | Total cohort with event (n = 28) | Patients without aortic events (n = 56) | Patients over 18 without aortic events (n = 37) | ||||
|---|---|---|---|---|---|---|---|---|
(Median age at event (range)) | (Median age at event (range)) | (Median age at event (range)) | ||||||
Male, n (%) | 11 (55%) | (39 (20–55)) | 5 (62.5%) | (43 (23–50)) | 16 (57.1%) | (39.5 (20–55)) | 32 (57.1%) | 19 (51.4%) |
Patients with missense mutation, n (%) | 5 (25%) | (40 (38–43)) | 1 (12.5%) | (48 (48–48)) | 6 (21.4%) | (40.5 (38–48)) | 38 (67.9%) | 25 (67.5%) |
Patients with truncating mutation, n (%) | 13 (65%) | (36 (20–55)) | 7 (87.5%) | (43 (23–50)) | 20 (71.4%) | (39.5 (20–55)) | 15 (26.8%) | 9 (24.3%) |
Patients with intronic mutation, n (%) | 2 (10%) | (33.5 (24–43)) | – | – | 2 (7.1%) | (33.5 (24–43)) | 3 (5.4%) | 3 (8.1%) |