Natural history of cardiovascular manifestations in Marfan syndrome

Objective: To investigate the natural history of mitral valve and aortic function in Marfan patients during childhood and adolescence. Methods: Cohort study of all pediatric patients followed at our institution with Marfan syndrome during the period 1981-1997. Main outcome was the occurrence of adverse cardiovascular outcomes measured both clinically and by ultrasound examination. Results: Fifty-two Marfan patients (25 male; 19 sporadic) were followed for a mean period of 7.9 years. Mitral valve prolapse (MVP) was diagnosed in 46 patients (88%) at a mean age of 9.7 years (range 1.0 to 18.2 years), more than 80% of whom presented as "silent MVP". Mitral regurgitation (MR) occurred in 25 patients (48%) with a mean age at initial diagnosis of 12.2 years (range 1.0 to 24.3). Aortic dilatation was diagnosed in 43 patients (83%) at a mean age of 9.5 years. Aortic regurgitation (AR) occurred in 13 patients (25%) with a mean age at diagnosis of 14.6 years (range 5.3 to 25.7 years). Both MVP and aortic dilatation developed at a constant rate during the age period of 5 to 20 years. In 23 (44%) patients MVP was diagnosed before aortic dilatation, in 18 (35%) the reverse occurred and in 11 (21%) patients the two abnormalities were diagnosed simultaneously. During follow-up, 21 patients (40%) showed progression of mitral valve dysfunction and progression of aortic abnormalities occurred in 13 (25%). Aortic surgery was performed in 10; 2 patients died of subsequent complications. Mitral valve surgery was performed in 6 patients. In sporadic female Marfan patients the age at initial diagnosis of MVP, MR, aortic dilatation and AR was lowest, the grade of MR and AR most severe, the time lapse between the occurrence of MVP and subsequent MR as well as between dilatation and subsequent AR shortest, and the risk for cardiovascular associated morbidity and mortality highest Conclusions: During childhood and adolescence in Marfan syndrome, mitral valve dysfunction as well as aortic abnormalities develop and progress gradually, often without symptoms, but may cause considerable morbidity and mortality by the end of the second decade, especially in female sporadic patients.