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

BACKGROUND

To evaluate the progress of care for patients with Marfan syndrome with FBN1 pathogenic variant carriers over the past 30 years.

METHODS

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).

RESULTS

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%.

CONCLUSIONS

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.