Objectives

Risk markers of cardiovascular events in children with Marfan syndrome remain little known. We assessed the prognostic value of aortic root Z-score in patients with Marfan syndrome diagnosed during childhood.

Methods

From the French multicenter database, 457 patients with Marfan syndrome, diagnosed before 18 y.o., were prospectively included in this cohort study. Echocardiographic measurements of aortic root diameters were performed at each visit. We calculated the Z-score of aortic root measurements using the Bichat formula. Mean Z-score was defined as the mean of the Z-score (mean ZS15) calculated for each measurement before the age of 16.

Results

Median age at end of FU was 15.9 years (interquartile 10.9–20.3). FU was complete for 69.5% of patients. Median FU was 4.6 years. A cardiovascular event occurred in 17 patients (3.7%, prophylactic aortic surgery n = 14, aortic dissection n = 1 and deaths n = 2). Survival free of cardiac events was 85.1% in patients with a mean ZS15 of the Valsalva diameter < 3 and 56.4% in patients with a mean ZS15 of the Valsalva diameter ≥ 3 ( P < 0.0001 by log-rank test) ( Fig. 1 ). In univariate analysis, Valsalva mean ZS15 ≥ 3, age at inclusion in the database, a lower heart rate and an increased arm/height ratio were associated with an increasing risk of cardiac events ( P < 0.0001, P = 0.04, P = 0.01 and P = 0.04 respectively). After multivariate adjustment using a cox proportional hazards model, only Valsalva mean ZS15 ≥ 3 and lack of FBN1 or TGBB mutation identified were associated with an increasing risk of cardiac events, P < 0.0001 and P = 0.04 respectively) ( Fig. 1 ).

Conclusion

Valsalva mean ZS15 may help to identify high-risk children.