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FLNA-related X-linked myxomatous valvular dysplasia

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • FLNA-related valvular dystrophy
    • Filamin A-related X-linked myxomatous valvular dysplasia
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: Q23.8
  • OMIM: 314400
  • UMLS: C0262436
  • MeSH: -
  • GARD: -
  • MedDRA: -
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