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

doi:10.2169/internalmedicine.9763-17

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

National Cerebral and Cardiovascular Center

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

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 language	English
Pages (from-to)	2209-2215
Number of pages	7
Journal	Internal Medicine
Volume	57
Issue number	15
DOIs	https://doi.org/10.2169/internalmedicine.9763-17
Publication status	Published - 2018

Keywords

Heart failure
Mitral regurgitation
Mucopolysaccharidosis
Osteogenesis imperfecta

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10.2169/internalmedicine.9763-17

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Hamatani, Y., Nakashima, J., Ohta-Ogo, K., Amaki, M., Koga, M., Aoyama, D., Marume, K., Sawada, K., Nakashima, Y., Shibata, A., Okada, A., Takahama, H., Hasegawa, T., Sugano, Y., Kanzaki, H., Ikeda, Y., Yasuda, S., Ishibashi-Ueda, H., & Anzai, T. (2018). 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? Internal Medicine, 57(15), 2209-2215. https://doi.org/10.2169/internalmedicine.9763-17

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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?",

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.",

keywords = "Heart failure, Mitral regurgitation, Mucopolysaccharidosis, Osteogenesis imperfecta",

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

note = "Publisher Copyright: {\textcopyright} 2018 The Japanese Society of Internal Medicine.",

year = "2018",

doi = "10.2169/internalmedicine.9763-17",

language = "English",

volume = "57",

pages = "2209--2215",

journal = "Internal Medicine",

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Hamatani, Y, Nakashima, J, Ohta-Ogo, K, Amaki, M, Koga, M, Aoyama, D, Marume, K, Sawada, K, Nakashima, Y, Shibata, A, Okada, A, Takahama, H, Hasegawa, T, Sugano, Y, Kanzaki, H, Ikeda, Y, Yasuda, S, Ishibashi-Ueda, H & Anzai, T 2018, '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?', Internal Medicine, vol. 57, no. 15, pp. 2209-2215. https://doi.org/10.2169/internalmedicine.9763-17

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 et al.
In: Internal Medicine, Vol. 57, No. 15, 2018, p. 2209-2215.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Mitral regurgitation and heart failure as the first presentation in a patient with features of two connective tissue disorders

T2 - A rare combination of mucopolysaccharidosis and osteogenesis imperfecta?

AU - Hamatani, Yasuhiro

AU - Nakashima, Junko

AU - Ohta-Ogo, Keiko

AU - Amaki, Makoto

AU - Koga, Masashi

AU - Aoyama, Daisetsu

AU - Marume, Kyohei

AU - Sawada, Kenichiro

AU - Nakashima, Yasuteru

AU - Shibata, Atsushi

AU - Okada, Atsushi

AU - Takahama, Hiroyuki

AU - Hasegawa, Takuya

AU - Sugano, Yasuo

AU - Kanzaki, Hideaki

AU - Ikeda, Yoshihiko

AU - Yasuda, Satoshi

AU - Ishibashi-Ueda, Hatsue

AU - Anzai, Toshihisa

PY - 2018

Y1 - 2018

N2 - 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.

AB - 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.

KW - Heart failure

KW - Mitral regurgitation

KW - Mucopolysaccharidosis

KW - Osteogenesis imperfecta

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AN - SCOPUS:85051118350

SN - 0918-2918

VL - 57

SP - 2209

EP - 2215

JO - Internal Medicine

JF - Internal Medicine

IS - 15

ER -

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?

Abstract

Keywords

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