title: Familial cardiac valvulopathy due to filamin A mutation.
abstract: We report on the clinical findings in siblings affected by the recently characterized X-linked form of hereditary cardiac valvular dystrophy or cardiac valve disease (OMIM 314400) due to mutations in the FLNA gene and review the literature on this condition. Although FLNA related cardiac valve disease is presumed to be a rare disorder, it is likely underdiagnosed. Several features of this condition may aid in its identification. FLNA related valvular disease can be recognized on the basis of its distinctive inheritance, early age of onset, and frequent multi-valve involvement.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305-5208, USA. jon.bernstein@stanford.edu
authors.forename: Jonathan A
authors.initials: JA
authors.lastname: Bernstein
authors.forename: Daniel
authors.initials: D
authors.lastname: Bernstein
authors.forename: Ute
authors.initials: U
authors.lastname: Hehr
authors.forename: Louanne
authors.initials: L
authors.lastname: Hudgins
mesh_terms: D002675:Child, Preschool; D003285:Contractile Proteins / Q000235:genetics*; D005260:Female; D064448:Filamins; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006349:Heart Valve Diseases / Q000235:genetics* / Q000473:pathology; D006351:Heart Valves / Q000002:abnormalities* / Q000473:pathology*; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins