Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature. (14th May 2015)

• Record Type: Journal Article
• Authors: Takeda, Norifumi; Morita, Hiroyuki; Fujita, Daishi; Inuzuka, Ryo; Taniguchi, Yuki; Imai, Yasushi; Hirata, Yasunobu; Komuro, Issei
• Is Part Of: American journal of medical genetics. Volume 167:Number 10(2015:Oct.)
• Page Start: 2382
• Page End: 2387
• Publication Date: 2015-05-14
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37162
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37162-sec-0001" sec-type="section"> <p>Congenital contractural arachnodactyly (CCA) is a connective tissue disease caused by mutations of the <italic>FBN2</italic>, 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 <italic>FBN2</italic> 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 <italic>FBN2</italic> might be useful to identify such high‐risk patients. © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract>