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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)2209-2215
Number of pages7
JournalInternal Medicine
Volume57
Issue number15
DOIs
Publication statusPublished - 2018
Externally publishedYes

Keywords

  • Heart failure
  • Mitral regurgitation
  • Mucopolysaccharidosis
  • Osteogenesis imperfecta

ASJC Scopus subject areas

  • Internal Medicine

Fingerprint

Dive into the research topics of '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?'. Together they form a unique fingerprint.

Cite this