title: Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy.
abstract: Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by marfanoid habitus with camptodactyly. However, cardiac features have rarely been documented in adults. We herein report a sporadic case of CCA in a 20-year-old woman who developed decompensated dilated cardiomyopathy. The patient did not have any mutations in the FBN1 or FBN2 genes, which are most commonly associated with Marfan syndrome and CCA, respectively. Although whether these two diseases are caused by a mutation(s) in the same gene or two different genes remains unknown, this case provides new clinical insight into the cardiovascular management of CCA.
authors.affiliation: Department of Cardiovascular Medicine, The University of Tokyo Hospital, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Yagi
authors.forename: Masaru
authors.initials: M
authors.lastname: Hatano
authors.forename: Norifumi
authors.initials: N
authors.lastname: Takeda
authors.forename: Saori
authors.initials: S
authors.lastname: Harada
authors.forename: Yukari
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Yuki
authors.initials: Y
authors.lastname: Taniguchi
authors.forename: Yukako
authors.initials: Y
authors.lastname: Shintani
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Morita
authors.forename: Norio
authors.initials: N
authors.lastname: Kanamori
authors.forename: Takeshi
authors.initials: T
authors.lastname: Aoyama
authors.forename: Masafumi
authors.initials: M
authors.lastname: Watanabe
authors.forename: Ichiro
authors.initials: I
authors.lastname: Manabe
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Akazawa
authors.forename: Koichiro
authors.initials: K
authors.lastname: Kinugawa
authors.forename: Issei
authors.initials: I
authors.lastname: Komuro
mesh_terms: D054119:Arachnodactyly / Q000150:complications* / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000150:complications*; D003286:Contracture / Q000150:complications* / Q000235:genetics*; D005260:Female; D000071838:Fibrillin-1; D000071840:Fibrillin-2; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D055815:Young Adult; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071840:Fibrillin-2; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines; C000605723:FBN2 protein, human