Aortic aneurysms and/or dissection have been reported with several other genetic disorders. Familial thoracic aortic aneurysm disease has been mapped to genetic loci, including 5q13-14 and 11q23.2-q24, that are not associated with abnormalities of fibrillin-1 or collagen metabolism71,72. Reported patterns of inheritance have included autosomal dominant, autosomal recessive, and sex-linked. More than five mutations in the FBN1 gene have been identified in patients with familial or spontaneous thoracic aortic aneurysm and dissection, with histopathologic changes characteristic of cystic medial degeneration, yet no demonstrable abnormalities of collagen or fibrillin metabolism in fibroblast culture73. Familial abdominal aortic aneurysm disease is often accompanied by thoracic involvement, but specific candidate genes have not been identified.
Patients with bicuspid aortic valve (BAV) disease often demonstrate ascending aortic enlargement, which is out of proportion to the associated hemo-dynamic change imposed by the valve lesion itself. Cystic medial degeneration, of the type seen in fibrillin-1 deficient mice and in patients with Mar-fan syndrome, underlies this dilatation and predisposes to dissection and/or aneurysm formation74. Similar changes have been described in patients with aortic coarctation, independent of an association with BAV disease75. Aortic dissection has also been reported in patients with Noonan's syndrome76, Turner's syndrome77, polycystic kidney disease78, cutis laxa79, and osteogen-esis imperfecta80.
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