Heart disease in patients with osteogenesis imperfecta - A systematic review

Hamoun Ashournia; Frank Ted Johansen; Lars Folkestad; Axel C P Diederichsen; Kim Brixen

doi:10.1016/j.ijcard.2015.06.001

Heart disease in patients with osteogenesis imperfecta - A systematic review

Hamoun Ashournia, Frank Ted Johansen, Lars Folkestad, Axel C P Diederichsen, Kim Brixen

Research output: Contribution to journal › Review article › peer-review

32 Citations (Scopus)

Abstract

INTRODUCTION: Osteogenesis imperfecta (OI) is a rare, inherited systemic connective tissue disease that causes decreased bioavailability of collagen type 1. Collagen type 1 is the most abundant connective tissue in the body and a key part of many organs. While the bone phenotype in OI is well described, less is known about the effects of decreased collagen on other organs. In the heart, collagen type 1 is present in the heart valves, chordae tendineae, annuli fibrosi and the interventricular septum. It is thus likely that the heart is affected in OI.

OBJECTIVES: The aim of this systematic literature review was to investigate whether patients with OI have an increased risk of cardiovascular disease compared to healthy adults.

DATA SOURCES: PubMed, Embase and key scientific meetings were searched for publications fulfilling the inclusion criteria.

STUDY SELECTION: Studies were selected if at least one patient with OI was described as having cardiovascular disease. The articles should be written in English, French, Italian, Spanish, German, Norwegian or Danish or have an English abstract.

DATA EXTRACTION: Data were extracted by HA, FTJ and LF using a predefined protocol.

RESULTS: A total of 68 studies were included in the review, comprising 51 case reports, 8 small case series (n<10 patients), 4 large case series (n≥10 patients) and 5 cross-sectional studies comparing patients and controls. Together, the papers comprised 499 patients and covered 45years of medical literature. The most commonly reported heart diseases amongst the patients with OI were valvulopathies and increased aortic diameter. Findings in the large case series and the cross-sectional studies were broadly similar to each other.

CONCLUSION: The findings support the hypothesis that patients with OI have increased risk of heart disease compared to healthy controls. It is biologically plausible that patients with OI may have an increased risk of developing heart disease, and valve disease in particular.

Original language	English
Journal	International Journal of Cardiology
Volume	196
Pages (from-to)	149-157
Number of pages	9
ISSN	0167-5273
DOIs	https://doi.org/10.1016/j.ijcard.2015.06.001
Publication status	Published - 2015

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title = "Heart disease in patients with osteogenesis imperfecta - A systematic review",

abstract = "INTRODUCTION: Osteogenesis imperfecta (OI) is a rare, inherited systemic connective tissue disease that causes decreased bioavailability of collagen type 1. Collagen type 1 is the most abundant connective tissue in the body and a key part of many organs. While the bone phenotype in OI is well described, less is known about the effects of decreased collagen on other organs. In the heart, collagen type 1 is present in the heart valves, chordae tendineae, annuli fibrosi and the interventricular septum. It is thus likely that the heart is affected in OI.OBJECTIVES: The aim of this systematic literature review was to investigate whether patients with OI have an increased risk of cardiovascular disease compared to healthy adults.DATA SOURCES: PubMed, Embase and key scientific meetings were searched for publications fulfilling the inclusion criteria.STUDY SELECTION: Studies were selected if at least one patient with OI was described as having cardiovascular disease. The articles should be written in English, French, Italian, Spanish, German, Norwegian or Danish or have an English abstract.DATA EXTRACTION: Data were extracted by HA, FTJ and LF using a predefined protocol.RESULTS: A total of 68 studies were included in the review, comprising 51 case reports, 8 small case series (n<10 patients), 4 large case series (n≥10 patients) and 5 cross-sectional studies comparing patients and controls. Together, the papers comprised 499 patients and covered 45years of medical literature. The most commonly reported heart diseases amongst the patients with OI were valvulopathies and increased aortic diameter. Findings in the large case series and the cross-sectional studies were broadly similar to each other.CONCLUSION: The findings support the hypothesis that patients with OI have increased risk of heart disease compared to healthy controls. It is biologically plausible that patients with OI may have an increased risk of developing heart disease, and valve disease in particular.",

author = "Hamoun Ashournia and Johansen, {Frank Ted} and Lars Folkestad and Diederichsen, {Axel C P} and Kim Brixen",

note = "Copyright {\textcopyright} 2015. Published by Elsevier Ireland Ltd.",

year = "2015",

doi = "10.1016/j.ijcard.2015.06.001",

language = "English",

volume = "196",

pages = "149--157",

journal = "International Journal of Cardiology",

issn = "0167-5273",

publisher = "Elsevier",

}

TY - JOUR

T1 - Heart disease in patients with osteogenesis imperfecta - A systematic review

AU - Ashournia, Hamoun

AU - Johansen, Frank Ted

AU - Folkestad, Lars

AU - Diederichsen, Axel C P

AU - Brixen, Kim

PY - 2015

Y1 - 2015

N2 - INTRODUCTION: Osteogenesis imperfecta (OI) is a rare, inherited systemic connective tissue disease that causes decreased bioavailability of collagen type 1. Collagen type 1 is the most abundant connective tissue in the body and a key part of many organs. While the bone phenotype in OI is well described, less is known about the effects of decreased collagen on other organs. In the heart, collagen type 1 is present in the heart valves, chordae tendineae, annuli fibrosi and the interventricular septum. It is thus likely that the heart is affected in OI.OBJECTIVES: The aim of this systematic literature review was to investigate whether patients with OI have an increased risk of cardiovascular disease compared to healthy adults.DATA SOURCES: PubMed, Embase and key scientific meetings were searched for publications fulfilling the inclusion criteria.STUDY SELECTION: Studies were selected if at least one patient with OI was described as having cardiovascular disease. The articles should be written in English, French, Italian, Spanish, German, Norwegian or Danish or have an English abstract.DATA EXTRACTION: Data were extracted by HA, FTJ and LF using a predefined protocol.RESULTS: A total of 68 studies were included in the review, comprising 51 case reports, 8 small case series (n<10 patients), 4 large case series (n≥10 patients) and 5 cross-sectional studies comparing patients and controls. Together, the papers comprised 499 patients and covered 45years of medical literature. The most commonly reported heart diseases amongst the patients with OI were valvulopathies and increased aortic diameter. Findings in the large case series and the cross-sectional studies were broadly similar to each other.CONCLUSION: The findings support the hypothesis that patients with OI have increased risk of heart disease compared to healthy controls. It is biologically plausible that patients with OI may have an increased risk of developing heart disease, and valve disease in particular.

AB - INTRODUCTION: Osteogenesis imperfecta (OI) is a rare, inherited systemic connective tissue disease that causes decreased bioavailability of collagen type 1. Collagen type 1 is the most abundant connective tissue in the body and a key part of many organs. While the bone phenotype in OI is well described, less is known about the effects of decreased collagen on other organs. In the heart, collagen type 1 is present in the heart valves, chordae tendineae, annuli fibrosi and the interventricular septum. It is thus likely that the heart is affected in OI.OBJECTIVES: The aim of this systematic literature review was to investigate whether patients with OI have an increased risk of cardiovascular disease compared to healthy adults.DATA SOURCES: PubMed, Embase and key scientific meetings were searched for publications fulfilling the inclusion criteria.STUDY SELECTION: Studies were selected if at least one patient with OI was described as having cardiovascular disease. The articles should be written in English, French, Italian, Spanish, German, Norwegian or Danish or have an English abstract.DATA EXTRACTION: Data were extracted by HA, FTJ and LF using a predefined protocol.RESULTS: A total of 68 studies were included in the review, comprising 51 case reports, 8 small case series (n<10 patients), 4 large case series (n≥10 patients) and 5 cross-sectional studies comparing patients and controls. Together, the papers comprised 499 patients and covered 45years of medical literature. The most commonly reported heart diseases amongst the patients with OI were valvulopathies and increased aortic diameter. Findings in the large case series and the cross-sectional studies were broadly similar to each other.CONCLUSION: The findings support the hypothesis that patients with OI have increased risk of heart disease compared to healthy controls. It is biologically plausible that patients with OI may have an increased risk of developing heart disease, and valve disease in particular.

U2 - 10.1016/j.ijcard.2015.06.001

DO - 10.1016/j.ijcard.2015.06.001

M3 - Review article

C2 - 26100571

SN - 0167-5273

VL - 196

SP - 149

EP - 157

JO - International Journal of Cardiology

JF - International Journal of Cardiology

ER -

Heart disease in patients with osteogenesis imperfecta - A systematic review

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