title: Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature.
abstract: Congenital contractural arachnodactyly (CCA) is a connective tissue disease caused by mutations of the FBN2, which encodes fibrillin-2. CCA patients have a marfanoid habitus; however, aortic dilatation and/or dissection as observed in Marfan syndrome have been rarely documented. Here, we report on a Japanese familial case of CCA resulting from a FBN2 splicing mutation (IVS32+5g→a), which leads to exon 32 being skipped, and the patients developed aortic dilatation and type A dissection. Although CCA patients have been believed to have favorable prognoses, repetitive aortic imaging studies must be performed in some patients to detect possible aortic disease early, and genetic testing of FBN2 might be useful to identify such high-risk patients.
authors.affiliation: Department of Cardiovascular Medicine, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.
authors.forename: Norifumi
authors.initials: N
authors.lastname: Takeda
authors.affiliation: Department of Cardiovascular Medicine, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.|Department of Translational Research for Healthcare and Clinical Science, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Morita
authors.affiliation: Department of Cardiovascular Medicine, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.
authors.forename: Daishi
authors.initials: D
authors.lastname: Fujita
authors.affiliation: Department of Pediatrics, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.
authors.forename: Ryo
authors.initials: R
authors.lastname: Inuzuka
authors.affiliation: Department of Orthopedic Surgery, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Taniguchi
authors.affiliation: Division of Cardiovascular Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Imai
authors.affiliation: Tokyo Teishin Hospital, Chiyoda-ku, Tokyo, Japan.
authors.forename: Yasunobu
authors.initials: Y
authors.lastname: Hirata
authors.affiliation: Department of Cardiovascular Medicine, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.
authors.forename: Issei
authors.initials: I
authors.lastname: Komuro
mesh_terms: D001011:Aorta / Q000378:metabolism* / Q000473:pathology; D054119:Arachnodactyly / Q000150:complications / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D020215:Carotid Artery, Internal, Dissection / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002648:Child; D003286:Contracture / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004108:Dilatation, Pathologic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005091:Exons; D005260:Female; D000071840:Fibrillin-2; D000071837:Fibrillins; D015870:Gene Expression; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: C000605723:FBN2 protein, human; D000071840:Fibrillin-2; D000071837:Fibrillins; D008840:Microfilament Proteins
keywords: Beals syndrome; aortic aneurysm; congenital contractural arachnodactyly; fibrillin-2; splice mutation