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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?
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....
| Autores principales: | , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Japanese Society of Internal Medicine
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120827/ https://www.ncbi.nlm.nih.gov/pubmed/29225276 http://dx.doi.org/10.2169/internalmedicine.9763-17 |
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| author | Hamatani, Yasuhiro Nakashima, Junko Ohta-Ogo, Keiko Amaki, Makoto Koga, Masashi Aoyama, Daisetsu Marume, Kyohei Sawada, Kenichiro Nakashima, Yasuteru Shibata, Atsushi Okada, Atsushi Takahama, Hiroyuki Hasegawa, Takuya Sugano, Yasuo Kanzaki, Hideaki Ikeda, Yoshihiko Yasuda, Satoshi Ishibashi-Ueda, Hatsue Anzai, Toshihisa |
| author_facet | Hamatani, Yasuhiro Nakashima, Junko Ohta-Ogo, Keiko Amaki, Makoto Koga, Masashi Aoyama, Daisetsu Marume, Kyohei Sawada, Kenichiro Nakashima, Yasuteru Shibata, Atsushi Okada, Atsushi Takahama, Hiroyuki Hasegawa, Takuya Sugano, Yasuo Kanzaki, Hideaki Ikeda, Yoshihiko Yasuda, Satoshi Ishibashi-Ueda, Hatsue Anzai, Toshihisa |
| author_sort | Hamatani, Yasuhiro |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-6120827 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | The Japanese Society of Internal Medicine |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-61208272018-09-04 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? Hamatani, Yasuhiro Nakashima, Junko Ohta-Ogo, Keiko Amaki, Makoto Koga, Masashi Aoyama, Daisetsu Marume, Kyohei Sawada, Kenichiro Nakashima, Yasuteru Shibata, Atsushi Okada, Atsushi Takahama, Hiroyuki Hasegawa, Takuya Sugano, Yasuo Kanzaki, Hideaki Ikeda, Yoshihiko Yasuda, Satoshi Ishibashi-Ueda, Hatsue Anzai, Toshihisa Intern Med Case Report 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. The Japanese Society of Internal Medicine 2017-12-08 2018-08-01 /pmc/articles/PMC6120827/ /pubmed/29225276 http://dx.doi.org/10.2169/internalmedicine.9763-17 Text en Copyright © 2018 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/). |
| spellingShingle | Case Report Hamatani, Yasuhiro Nakashima, Junko Ohta-Ogo, Keiko Amaki, Makoto Koga, Masashi Aoyama, Daisetsu Marume, Kyohei Sawada, Kenichiro Nakashima, Yasuteru Shibata, Atsushi Okada, Atsushi Takahama, Hiroyuki Hasegawa, Takuya Sugano, Yasuo Kanzaki, Hideaki Ikeda, Yoshihiko Yasuda, Satoshi Ishibashi-Ueda, Hatsue Anzai, Toshihisa 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? |
| title | 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? |
| title_full | 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? |
| title_fullStr | 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? |
| title_full_unstemmed | 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? |
| title_short | 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? |
| title_sort | 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? |
| topic | Case Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6120827/ https://www.ncbi.nlm.nih.gov/pubmed/29225276 http://dx.doi.org/10.2169/internalmedicine.9763-17 |
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