Figure 1.

Pathophysiology of aortic and cardiac manifestations in Marfan syndrome. (A) Cardiovascular manifestations in the MFS heart include mitral valve prolapse (indicated by *), ventricular dysfunction and arrhythmia. Except for the aorta, the large blood vessels have been omitted from this scheme for clarity. (B) Healthy aorta. (C) Aortic aneurysm development in a MFS aorta, increasing the risk for dissection and rupture. (D) Aortic wall architecture of healthy tissue. (E) Aortic wall architecture of MFS diseased tissue, characterized by adventitia thickening, increased collagen deposition, smooth muscle cell apoptosis, elastic fiber fragmentation, increased MMP expression, leukocyte infiltration and endothelial dysfunction. Therapeutic approaches for the treatment of cardiovascular manifestations in MFS are indicated in red and discussed in the manuscript.