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Heart disease in patients with osteogenesis imperfecta - A systematic review
Hamoun Ashournia1, Frank Ted Johansen2, Lars Folkestad3
1Department of Endocrinology, Odense University Hospital, Odense, Denmark; Department of Neurosurgery, Aarhus University Hospital, Aarhus, Denmark.
Insights
Patients with Osteogenesis Imperfecta (OI) show an increased risk of heart disease, particularly valvulopathies and aortic dilation. This systematic review highlights the cardiovascular implications of this rare connective tissue disorder.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Connective Tissue Diseases
Background:
- Osteogenesis Imperfecta (OI) is a rare inherited disorder affecting collagen type 1 bioavailability.
- While bone manifestations are well-documented, the impact of OI on other organs, including the heart, is less understood.
- Collagen type 1 is integral to cardiac structures like valves and the interventricular septum, suggesting potential cardiac involvement in OI.
Purpose of the Study:
- To systematically review the literature and assess the risk of cardiovascular disease in patients with Osteogenesis Imperfecta (OI) compared to healthy individuals.
- To identify specific cardiovascular conditions associated with OI.
Main Methods:
- A systematic literature search was conducted across PubMed, Embase, and key scientific meeting proceedings.
- Studies were included if they described cardiovascular disease in at least one patient with OI and were published in English or had an English abstract.
- Data extraction followed a predefined protocol from 68 selected studies, encompassing case reports, case series, and cross-sectional studies.
Main Results:
- The review included 68 studies covering 499 patients over 45 years.
- The most frequently reported cardiovascular issues in OI patients were valvulopathies and increased aortic diameter.
- Findings from large case series and cross-sectional studies were consistent.
Conclusions:
- The evidence supports an elevated risk of heart disease in patients with Osteogenesis Imperfecta (OI) compared to controls.
- It is biologically plausible that OI contributes to an increased incidence of cardiovascular conditions, especially heart valve disease.
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 45 years 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.
