Familial Thoracic Aortic Aneurysm and Dissection Associated with Marfan-related Gene Mutations: Case Report of a Family with Two Gene Mutations

Tohru Yamawaki; Kazuhiro Nagaoka; Kunio Morishige; Kenji Sadamatsu; Hideki Tashiro; Hiroshi Yasunaga; Hiroko Morisaki; Takayuki Morisaki

doi:10.2169/internalmedicine.48.1833

CASE REPORTS

Familial Thoracic Aortic Aneurysm and Dissection Associated with Marfan-related Gene Mutations: Case Report of a Family with Two Gene Mutations

Tohru Yamawaki, Kazuhiro Nagaoka, Kunio Morishige, Kenji Sadamatsu, Hideki Tashiro, Hiroshi Yasunaga, Hiroko Morisaki, Takayuki Morisaki

著者情報

キーワード: thoracic aortic aneurysm and dissection, Marfan's syndrome, Loeys-Dietz syndrome, FBN1, TGFBR2, TGF-β

ジャーナルオープンアクセス

2009 年 48 巻 7 号 p. 555-558

DOI https://doi.org/10.2169/internalmedicine.48.1833

詳細

抄録

We report three cases of thoracic aortic aneurysm and dissection in a Japanese family. Marfan-related genes were analyzed; FBN1 and TGFBR2 gene mutations were observed in this family.

責任著者(Corresponding author)

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