Objectives

Life expectancy of patients with Marfan syndrome has increased, due to earlier diagnosis, better familial screening, regular follow-up (FU) and prophylactic aortic surgery (PASu). Incidence of events in affected patients recognized during childhood is unknown.

Methods

Four hundred and sixty-five patients with Marfan syndrome, diagnosed before 18 years old were included in the French multicenter database. Cardio-vascular events (death, aortic dissection or PASu) were recorded.

Results

A cardio-vascular event occurred in 25 patients (5.4% 95CI 3.5–7.8%), including PASu ( n = 20, 4.3% 95CI 2.5–6.2%), aortic dissection ( n = 3, 0.6% 95CI 0.0–1.4%) and deaths ( n = 2, 0.4% 95CI 0.0–1.0%) ( Fig. 1 ). Sixteen events (64%) occurred before 19 years old (Median 15.0, min. 2.8, interquartile 11.7–16.3; PASu n = 12, deaths n = 2 and dissection n = 2). An aortic surgery was performed in 23 patients (4.9%, 95CI 3.0–6.9%), including a Bentall procedure with mechanical aortic valve in 10 (43.5%), a valve sparing surgery in the remaining 13 (56.5%) and a supra-coronary graft in 4 (17.4%, dissection: n = 2 and PASu: n = 2). Mean age at the date of PASu was 17.1 ± 6.5 year-old. Events occurred before or at inclusion in the database in 8 patients (32.0%) (PASu n = 5, dissection n = 2, death n = 1). Dissection was observed before inclusion in 2 patients and during pregnancy in 1 patient. Kaplan-Meier survival estimate indicates that 95% of patients remained free from events at eighteen and 78% at thirty years old.

Conclusion

Prophylactic surgery for enlarged aorta is the main cause of cardiac events in patients with Marfan syndrome diagnosed during childhood. A quarter of them have a cardiac event before thirty years old.