Natural history of cardiovascular manifestations in Marfan syndrome

Aims-To investigate the natural history of mitral valve and aortic abnormal ities in patients with Marfan syndrome during childhood and adolescence. Methods-Fifty two patients with Marfan syndrome were followed for a mean of 7.9 years. Occurrence of adverse cardiovascular outcomes was measured clin ically and by ultrasound examination. Results-Mitral valve prolapse (MVP) was diagnosed in 46 patients at a mean age of 9.7 years, more than 80% of whom presented as "silent MVP". Mitral r egurgitation (MR) occurred in 25 patients, aortic dilatation in 43, and aor tic regurgitation (AR) in 13. Both MVP and aortic dilatation developed at a constant rate during the age period 5-20 years. In 23 patients MVP was dia gnosed before aortic dilatation, in 18 the reverse occurred, and In 11 pati ents the two abnormalities were diagnosed simultaneously. During follow up, 21 patients showed progression of mitral valve dysfunction; progression of aortic abnormalities occurred in 13. Aortic surgery was performed in 10; t wo died of subsequent complications. Mitral valve surgery was performed in six. 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 sev ere, the time lapse between the occurrence of MVP and subsequent MR as well as between dilatation and subsequent AR shortest, and the risk for cardiov ascular associated morbidity and mortality highest. Conclusions-During childhood and adolescence in Marfan syndrome, mitral val ve dysfunction as well as aortic abnormalities develop and progress gradual ly, often without symptoms, but may cause considerable morbidity and mortal ity by the end of the second decade, especially in female sporadic patients .