Advances in Marfan Syndrome Care: The Limits of Type B Dissection.

Abstract

To evaluate the progress of care for patients with Marfan syndrome with FBN1 pathogenic variant carriers over the past 30 years. Patients who visited the center were entered into a prospective registry. Aortic events (surgeries and dissections) and deaths are reported in 10-year periods (1995-2004, 2005-2014, and 2015-2023). A total of 1898 Marfan syndrome with FBN1 pathogenic variant carrier patients were included, median age 24.90 (interquartile range, 10.83-39.07) years at their first visit, 51% were female. Age at first visit decreased by 6 years over the 3 periods. The incidence of aortic root surgery before the first visit tended to increase (38 of 516 [7.4%] vs 77 of 903 [8.5%] vs 41 of 479 [8.6%]), and valve-sparing surgery increased at the expense of Bentall procedures. Aortic dissections occurrence decreased (7.8% vs 6.1% vs 4.8%, P < .001). This decrease was limited to type A aortic dissections (6.0% vs 4.7% vs 2.7%, P < .001), which mainly occurred before the first visit (87%). In contrast, the incidence of type B aortic dissections did not change (1.7% vs 1.4% vs 2.1%), with 52% occurring after the first visit. Lastly, survival according to the year of first visit significantly increased (P < .001), with the percentage of patients who survived for 75 years increasing from 52.4%, to 63.0%, and 79.4%. The incidence of type A aortic dissections decreased, valve-sparing surgery is becoming the standard, and survival improved. However, current care does not prevent type B dissections. These results are important for patients' information, and focusing research on remaining issues.