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Single gene disorders of the aortic wall
Cardiovascular Pathology, 07/27/2012
Halushka MK – Within the pediatric and young adult population, there are over 15 causes of ascending aortic disease. Previously, these diverse diseases, along with their histopathology, have been extensively characterized. Most genetic causes of root aneurysm are extremely rare. Amongst these, five diseases are relatively common with known genetic mutations for which pathologists should be familiar. These are Marfan syndrome, vascular Ehlers–Danlos syndrome, Loeys–Dietz syndrome, Turner syndrome, and familial thoracic aneurysm and dissection.