Table 5.

Type of FBN-1 variant and phenotype in patients with diagnosis of MFS

	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

MVP Mitral valve prolapse, SD Sudden death, TA Thoracic aorta aneurysm, TAAD Type A dissection