FLNA-related X-linked myxomatous valvular dysplasia

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FLNA-related X-linked myxomatous valvular dysplasia

Synonyms: FLNA-related valvular dystrophy | Filamin A-related X-linked myxomatous valvular dysplasia

A rare genetic cardiac malformation characterized by progressive myxomatous degeneration predominantly of the mitral valve (but not uncommonly with multivalvular involvement) presenting as valve thickening and dysfunction with variable stenosis prolapse and/or regurgitation and potentially resulting in lethal heart failure. Hyperextensible skin and joint hypermobility have been reported in some patients. Hemizygous males display a more severe phenotype than heterozygous females.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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FLNA-related X-linked myxomatous valvular dysplasia?

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