aortic aneurysm familial thoracic type 3
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Pathology
- degenerative changes in the aortic wall
- characteristic histologic appearance of 'medial necrosis'
- degeneration & fragmentation of elastic fibers
- loss of smooth muscle cells
- accumulation of basophilic ground substance
Genetics
- autosomal dominant with reduced penetrance & variable expression
- associated with defects in TGFBR2