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Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature
Author(s) -
Takeda Norifumi,
Morita Hiroyuki,
Fujita Daishi,
Inuzuka Ryo,
Taniguchi Yuki,
Imai Yasushi,
Hirata Yasunobu,
Komuro Issei
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37162
Subject(s) - arachnodactyly , marfan syndrome , medicine , aortic dissection , dissection (medical) , aortic aneurysm , aorta , disease , surgery
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. © 2015 Wiley Periodicals, Inc.