Abstract Background/Introduction The management of Marfan syndrome has benefited from many advances in recent years, such as increased genetic testing and improved surgery. Purpose We have used our registry, which includes all patients who have come to our reference center over many years, to look at the evolution of the population and aortic events over time. The registry started in 1996 and has continued to this day. Methods Retrospective study of patients with a pathogenic variant of FBN1 who came to the center between 1996 and 2023. All patients are followed up every 3 years. Results During the period of the study, a total of 1898 patients with a FBN1 pathogenic variant were included in the registry. 977 (51%) were women. Age and gender remained stable at first visit so that the duration of the follow-up was longer and mean age at last visit was older for patients who came earlier: 1995-2004: 43.7±0.82 years; vs 2005-2014: 34.4±0.58 years vs 2015-2023: 28.7±0.80, p0.0001. During the period of the study, the proportion of patients arriving at the reference center for the first time after aortic root surgery remained stable (1995-2004: 38/516 (7.4%) vs 2005-2014: 77/903 (8.5%) vs 2015-2023: 41/479 (8.6%). However, the type of preventive surgery performed in this population has evolved over the years, with an increase in valve sparing surgery and decrease of classical Bentall procedures (figure 1). The proportion of patients who arrived for the first time to the reference center with an aortic dissection (which therefore occurred before recognition of the syndrome) decreased among the years: 1995-2004: 40/516 (7.8%), vs 2005-2014: 55/903 (6.1%), vs 2015-2023: 23/479 (4.8%), p0.01. This decrease is limited to the proportion of patients with type A aortic dissection 1995-2004: 31/516 (6.0%) vs 2005-2014: 42/903 (4.7%); vs 2015-2023: 13/479 (2.7%), whereas the proportion of patients who had undergone a type B dissection before consulting in the center remained stable : 1995-2004: 9/516 (1.7%); vs 2005-2014: 13/903 (1.4%) vs 2015-2023: 10/479 (2.1%) (figure 2). After the first visit to the center, 35 type B dissections occurred in the entire population (52% of all type B dissections), whereas 13 type A dissections occurred in the entire population (13% of all type A dissection), suggesting that the recognition of the disease did not allow prevention of type B aortic dissections. Conclusion(s) Advances in patient care have resulted in a lower incidence of type A aortic dissection in recent years. However, type B dissection has remained stable. Finally, the nature of prophylactic surgery has evolved, with valve preservation becoming the rule. Figure 1: Evolution of preventive aortic root surgery in patients with FBN1 pathogenic variants Figure 2: Evolution of aortic events in patients with FBN1 pathogenic variants. Type A (B) represents type A (B) aortic dissection. Events sum to 100% for all periods.
Tchitchinadze et al. (Sat,) studied this question.