Cardiovascular lesions in bovine Marfan syndrome.

Bovine Marfan syndrome is a genetic disease with many of the clinical and pathologic manifestations of human Marfan syndrome. Major manifestations include ectopia lentis and aortic dilatation, aneurysm, and rupture. Affected cattle have a defect in fibrillin metabolism similar to that in human patients. Ten cattle were followed and their disease progression and lesions documented. Ages ranged from a term fetus (No. 9) to a 4-year-old cow (No. 4); three animals were male (Nos. 1-3) and seven were female (Nos. 4-10). Of eight animals (80%) that died or were euthanatized (Nos. 1-3, 5-9), six (75%) had severe cardiovascular lesions identified at necropsy. Gross cardiovascular lesions of bovine Marfan syndrome included cardiac tamponade secondary to aortic rupture (animal Nos. 3, 6, 8), dissecting aneurysms of the aorta and pulmonary artery (animal No. 5), and intrauterine cardiac tamponade secondary to rupture of the pulmonary artery (animal No. 9). Microscopically, Verhoeff Van Gieson-stained sections of aorta contained severe fragmentation of the elastic laminae in the aortic media, but the cystic medial necrosis seen in human Marfan aortae was not identified, even in the chronic aortic dissection. Ultrastructurally, affected aortic tissue was characterized by thin, dark elastic fibers with abundant, tangled microfibrils on the periphery. Swirls of collagen fibers and bundles of hypertrophic smooth muscle cells replaced damaged elastic laminae. Gross and microscopic cardiovascular lesions in bovine Marfan syndrome are similar to those in human Marfan syndrome. Bovine Marfan syndrome is a valuable model for investigation of molecular pathogenesis and treatment of human Marfan syndrome.