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aortic aneurysm familial thoracic type 4; familial thoracic aortic aneurysm & dissection
Pathology:
- degenerative changes in the aortic wall
- characteristic histologic appearance of 'medial necrosis'
a) degeneration & fragmentation of elastic fibers
b) loss of smooth muscle cells
c) accumulation of basophilic ground substance
- marked aortic stiffness
- show large areas of medial degeneration with very low smooth muscle cells content
Genetics:
- associated with defects in MYH11
General
familial aortic aneurysm
Database Correlations
OMIM 132900
References
UniProt :accession 132900