aortic aneurysm—familial thoracic type 4

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aortic aneurysm—familial thoracic type 42016-11-24T20:29:42+00:00

aortic aneurysm—familial thoracic type 4

CARDIOLOGY

Definition A disorder (OMIM:132900) characterised by permanent dilation of the thoracic aorta due to degenerative changes in the aortic wall.

Pathology Cystic medial necrosis with degeneration and fragmentation of elastic fibres, loss of smooth muscle cells, and accumulation of basophilic ground substance. 

Molecular pathology Defects of MYH11, which encodes a heavy chain of myosin involved in cytokinesis, maintaining cell shape, and specialised functions–e.g., secretion and capping, cause aortic aneurysm—familial thoracic type 4. 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYH11

http://www.uniprot.org/uniprot/P35749

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