@article{182b4ceb347b4a42a0f8ca34590d8014,
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.",
keywords = "Congenital contractural arachnodactyly, Connective tissue disease, Dilated cardiomyopathy, Fibrillin-2, Heart failure",
author = "Hiroki Yagi and Masaru Hatano and Norifumi Takeda and Saori Harada and Yukari Suzuki and Yuki Taniguchi and Yukako Shintani and Hiroyuki Morita and Norio Kanamori and Takeshi Aoyama and Masafumi Watanabe and Ichiro Manabe and Hiroshi Akazawa and Koichiro Kinugawa and Issei Komuro",
note = "Publisher Copyright: {\textcopyright} 2015 The Japanese Society of Internal Medicine.",
year = "2015",
doi = "10.2169/internalmedicine.54.4280",
language = "英語",
volume = "54",
pages = "1237--1241",
journal = "Internal Medicine",
issn = "0918-2918",
publisher = "Japanese Society of Internal Medicine",
number = "10",
}