Effect of beta-blocker therapy on progression of aortic dilatation in the Marfan syndrome patients with subtypes of fibrillin 1 gene mutation

Background Mutation of the fibrillin 1 (FBN1) gene was common in the Marfan syndrome (MFS) leading to aortic dilatation. Purpose This study aimed to evaluate the effect of beta-blocker therapy on aortic dilatation in the MFS patients with subtypes of FBN1 gene mutation. Methods An observational prospective study included 67 MFS patients with predicting-happloinsufficiency (PTC) or dominant-negative (DN) mutation of FBN1 gene who were followed up at 2.8 ± 1.8 years. Aortic diameters and the rate of aortic dilatation were evaluated by echocardiography. Results At the baseline, dimension of aortic sinus of Valsalva of PTC-MFS patients and DN-MFS patients were in the upper bound of normal-range [Z score: 2.3 ± 1.82 (95% CI: 1.69; 2.91) vs. 2.67 ± 1.58 (95% CI: 2.02; 3.32), respectively, P  > 0.05]. While, dimension of ascending aorta of DN-MFS patients were in the upper bound of normal range and was higher than PTC-MFS patients [Z score: 2.8 ± 2.16 (95% CI: 2.05; 3.55) vs. 1.69 ± 2.32 (95% CI: 0.66; 2.72), respectively, P  > 0.05]. With the beta-blocker therapy, the rate of aortic dilatation was delayed: at aortic sinus of Valsalva in PTC-MFS patients as 0.27 ± 0.69 mm/m 2 .year (95% CI: −0.19; 0.73) was higher than in DN-MFS patients as 0.05 ± 2.78 mm/m 2 .year (95% CI: −1.43; 1.54), P  > 0.05; and at ascending aorta in PTC-MFS patients as 0.37 ± 0.93 mm/m 2 .year (95% CI: −0.35; 1.08) was lower than in DN-MFS patients as 1.65 ± 2.75 mm/m 2 .year (95% CI: −0.1; 3.4), P  > 0.05. Conclusion With beta-blocker therapy, the rate of aortic dilatation for FBN1-MFS patients was delayed and not significantly different between subtypes of FBN1 gene mutation.