Cystic medial necrosis of aorta
Overview
Familial thoracic aortic aneurysm (also referred to as familial aortic dissection or cystic medial necrosis of aorta)is an autosomal dominantdisorder of large arteries. A degenerative breakdown of collagen, elastin, and smooth muscle caused by aging contribute to weakening of the wall of the artery. In the aorta, this can result in the formation of a fusiform aneurysm. There is also increased risk of aortic dissection.
Causes
Aortic dissection is more common in patients with hypertension, connective tissue disorders, congenital aortic stenosis or bicuspid aortic valve, and in those with first-degree relatives with history of thoracic dissections. These diseases affect the media of the aorta and predispose it to dissection. * Aortopathy may be due to the following heritable diseases: o Marfan syndrome o Ehlers-Danlos syndrome o Annuloaortic ectasia o Familial aortic dissections o Adult polycystic kidney disease o Turner syndrome o Noonan syndrome o Osteogenesis imperfecta o Bicuspid aortic valve o Coarctation of the aorta o Connective tissue disorders o Metabolic disorders (eg, homocystinuria, familial hypercholesterolemia)