title: Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects.
abstract: Myxomatous dystrophy of the cardiac valves is a heterogeneous group of disorders, including syndromic diseases such as Marfan syndrome and isolated valvular diseases. Mitral valve prolapse, the most common form of this disease, is presumed to affect approximately 2% to 3% of the population and remains one of the most common causes of valvular surgery. During the past years, important effort has been made to better understand the pathophysiological basis of mitral valve prolapse. Autosomal-dominant transmission is the usual inheritance with reduced penetrance and variable expressivity. Three loci have been mapped to chromosomes 16p11-p12, 11p15.4 and 13q31-32, but the underlying genetic defects are not currently known. An X-linked recessive form has been originally described by Monteleone and Fagan in 1969. Starting from one large French family and three smaller other families in which MVP was transmitted with an X-linked pattern, we have been able to identify three filamin A mutations p.Gly288Arg and p.Val711Asp and a 1,944-bp genomic deletion coding for exons 16 to 19. In this review, we describe the genetic, echocardiographic and functional aspects of the filamin-A-related myxomatous mitral valve dystrophy.
authors.affiliation: l'institut du thorax, Clinique Cardiologique and Inserm, 915, CHU de Nantes, France.
authors.forename: Aurélie
authors.initials: A
authors.lastname: Lardeux
authors.forename: Florence
authors.initials: F
authors.lastname: Kyndt
authors.forename: Simon
authors.initials: S
authors.lastname: Lecointe
authors.forename: Hervé Le
authors.initials: HL
authors.lastname: Marec
authors.forename: Jean
authors.initials: J
authors.lastname: Merot
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: Schott
authors.forename: Thierry
authors.initials: T
authors.lastname: Le Tourneau
authors.forename: Vincent
authors.initials: V
authors.lastname: Probst
mesh_terms: D000818:Animals; D003285:Contractile Proteins / Q000235:genetics* / Q000378:metabolism; D004452:Echocardiography; D064448:Filamins; D040181:Genetic Diseases, X-Linked / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics* / Q000378:metabolism; D008943:Mitral Valve / Q000000981:diagnostic imaging / Q000378:metabolism / Q000503:physiopathology; D008945:Mitral Valve Prolapse / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins