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 February 2026
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FLNA-related X-linked myxomatous valvular dysplasia?
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Advocacy Organizations
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
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