Some Unusual Features of the Marfan Syndrome

Abstract

Dilation of the base of the aorta that is intrapericardially located is the most common and the earliest cardiovascular anomaly in the Marfan syndrome. At this stage, aortic regurgitation is frequent, and routine radiologic studies are negative. Retrograde aortography will, in general, show large aneurysms involving the base of the aorta. Four cases of the Marfan syndrome with involvement of the skeletal and cardiovascular systems are reported. In the first two cases with clinical evidence of aortic regurgitation the chest roentgenograms showed relatively normal heart silhouettes, while retrograde aortograms revealed large aortic aneurysms in the intrapericardial portion of the aorta involving the sinuses of Valsalva and the aortic ring. Case 1 had, in addition, a carotid body tumor, which was surgically removed. The remaining two cases had dissecting aneurysms of the aorta. Case 3 died and necropsy showed involvement of many systems and several arteries other than the aorta (carotid, subclavian, renal, femoral, splenic and pulmonary arteries). Case 4 was surgically treated and showed marked improvement. It is emphasized that the existence of a large aneurysm of the intrapericardiac portion of the aorta may not be detectable without aortography. It is also pointed out that the relation between the cystic medionecrosis seen in the Marfan syndrome, Erdheim''s cystic medionecrosis and the so-called formes frustes of the Marfan syndrome is not clear.