Echocardiographic assessment of cardiovascular abnormalities in the Marfan syndrome. Comparison with clinical findings and with roentgenographic estimation of aortic root size.

Echocardiographic abnormalities of the mitral valve and aortic root were compared with auscultatory findings and with assessment of aortic root size by chest roentgenography in 61 patients with the Marfan syndrome. Echocardiography was more sensitive than physical examination in detecting valvular and aortic root abnormalities. Although physical examination revealed findings of mitral valve disease and/or of aortic regurgitation in 52 percent of patients (mitral valve disease in 44 percent and aortic regurgitation in 23 percent), echocardiography detected abnormalities of the mitral valve and/or aortic root in 82 percent of patients (mitral valve prolapse in 57 percent and aortic root enlargement in 69 percent). Prevalence of mitral valve prolapse was approximately equal in male and female patients, whereas aortic root enlargement was more frequent in males (83 percent) than in females (50 percent). Echocardiographically detected aortic root enlargement was frequently not apparent on chest x-ray films. Indeed, five patients with markedly increased aortic root diameters (ranging from 6.0 to 7.9 cm) had no evident enlargement of the aortic root on routine chest x-ray films. In all four of those patients who had angiographic and/or pathologic correlations, confirmation of marked aortic root dilatation was obtained. There are limitations to echocardiographic evaluation of the presence and severity of underlying cardiovascular disease in patients with the Marfan syndrome. Mitral valve disease may not be detected, especially in patients with left ventricular dilatation. In addition, due to anteroposterior compression of the left atrium by the enlarged aorta, left atrial size may be underestimated in patients with aortic root enlargement.