The Marfan syndrome: cardiovascular physical findings and diagnostic correlates

Correlations among cardiac symptoms and auscultatory and phonoechocardiographic findings in Marfan syndrome have not been completely defined. A total of 24 patients with Marfan syndrome (16 men and 8 women; mean age 28.2 +/- 8.6 years) were studied. Mitral valve prolapse was noted in 22, of whom 19 had either nonejection systolic click or mitral regurgitation murmur. Mitral regurgitation was noted in 12 patients by Doppler imaging. Aortic root dilatation was noted in 20 patients and aortic regurgitation in six, five of whom had aortic regurgitation murmur (5 of 20 patients had undergone surgery). Proximal aortic dissection was noted in two. Dyspnea (n = 12) was associated with progressive mitral or aortic regurgitation in four, but in the others dyspnea could not be explained by valvular or ventricular abnormalities. Chest pain was related to pneumothorax in five and aortic dissection in two but was not associated with either in 15 patients. Palpitations (n = 12) and lightheadedness (n = 6) were not associated with specific arrhythmias. In conclusion, mitral valve prolapse and aortic root dilatation were the most common cardiovascular abnormalities in Marfan syndrome. Mitral valve prolapse was frequently associated with typical auscultatory findings and symptoms including dyspnea, chest pain, palpitations, and lightheadedness, whereas aortic root dilatation could be clinically silent unless complicated by aortic regurgitation or aortic dissection.