Mitral regurgitation and heart failure as the first presentation in a patient with features of two connective tissue disorders: A rare combination of mucopolysaccharidosis and osteogenesis imperfecta?

Yasuhiro Hamatani, Junko Nakashima, Keiko Ohta-Ogo, Makoto Amaki, Masashi Koga, Daisetsu Aoyama, Kyohei Marume, Kenichiro Sawada, Yasuteru Nakashima, Atsushi Shibata, Atsushi Okada, Hiroyuki Takahama, Takuya Hasegawa, Yasuo Sugano, Hideaki Kanzaki, Yoshihiko Ikeda, Satoshi Yasuda, Hatsue Ishibashi-Ueda, Toshihisa Anzai

研究成果: Article査読

2 被引用数 (Scopus)

抄録

Connective tissue disorders sometimes involve cardiovascular systems. This report describes the case of a middle-aged man with mitral regurgitation and heart failure. He had distinctive features of mucopolysaccharidosis type (MPS) III, but no gene mutations that were known to be associated with MPS. Meanwhile, he had a COL1A2 gene mutation that is associated with osteogenesis imperfecta (OI), and had some features that were compatible with OI. The patient might have had a rare connective tissue disorder with the characteristics of MPS III and OI, which was initially detected as a result of the cardiovascular manifestations.

本文言語English
ページ(範囲)2209-2215
ページ数7
ジャーナルInternal Medicine
57
15
DOI
出版ステータスPublished - 2018
外部発表はい

ASJC Scopus subject areas

  • 内科学

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