Connective tissue provides support to tendons, ligaments, vascular walls, cartilage, heart valves and other structures. In the Marfan syndrome, there is an abnormality in the chemical make up of the connective tissue. As a result, many structures do not have normal stiffness or durability. The incidence of Marfan syndrome is 1 in 10,000. There is no single, readily available test for diagnosing Marfan syndrome.
Diagnosis is based on clinical criteria and overall pattern of malformation.
Common abnormalities include dilation of the aorta, aortic valve regurgitation, mitral valve prolapse and mitral valve regurgitation. Progressive enlargement of the aorta is noted on serial echocardiography. Dilation of the aorta may lead to aneurysm formation and increases the risk of aortic dissection. Dilation of the aortic root may lead to progressive aortic valve regurgitation and left ventricular volume overload. Of the many clinical manifestations of Marfan syndrome, dilation of the aorta is the most serious.