Some Unusual Features of the Marfan Syndrome

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. Problems related to etiology, diagnosis, pathology, and treatment are discussed. It is emphasized that the existence of a large aneurysm of the intrapericardiac portion of the aorta may not be detectable without aortography.