cardiac valvular dysplasia, X-linked


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cardiac valvular dysplasia, X-linked

A rare, X-linked dominant heart disease (OMIM:314400) clinically characterised by mitral and/or aortic valve regurgitation, and histologically characterised by fragmentation of collagen within the valve and accumulation of proteoglycans, resulting in redundant valve tissue and billowing of the valve leaflets.

Molecular pathology
Defects in FLNA, which encodes filamin A, cause terminal osseous dysplasia.
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