Article
Congenital Contractural Arachnodactyly without FBN1 or FBN2 Gene Mutations Complicated by Dilated Cardiomyopathy.
Internal medicine (Tokyo, Japan) - 1 Jan 2015
Yagi Hiroki, Hatano Masaru, Takeda Norifumi, Harada Saori, Suzuki Yukari, Taniguchi Yuki, Shintani Yukako, Morita Hiroyuki, Kanamori Norio, Aoyama Takeshi, Watanabe Masafumi, Manabe Ichiro, Akazawa Hiroshi, Kinugawa Koichiro, Komuro Issei
Abstract excerpt
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...
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