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Cardiovascular disease in patients with osteogenesis imperfecta - a nationwide, register-based cohort study
Lars Folkestad1, Jannie Dahl Hald2, Jeppe Gram3
1Department of Endocrinology, Odense University Hospital, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark; Department of Endocrinology, Hospital of Southwest Denmark, Esbjerg, Denmark.
Insights
Patients with Osteogenesis Imperfecta (OI) face a significantly higher risk of cardiovascular disease (CVD), including heart failure and valve regurgitation. This study highlights the link between collagen defects in OI and the development of CVD.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Rheumatology
Background:
- Osteogenesis Imperfecta (OI) is a genetic disorder affecting collagen, crucial for heart and vascular development.
- The cardiovascular disease (CVD) risk in OI patients remains poorly understood.
Purpose of the Study:
- To investigate the risk of symptomatic cardiovascular disease (CVD) in individuals diagnosed with Osteogenesis Imperfecta (OI).
Main Methods:
- A nationwide, population-based, longitudinal cohort study was conducted in Denmark from 1977 to 2013.
- Included were 687 OI patients and 3435 matched controls from the general population.
- Sub-hazard ratios (SHRs) were calculated for various cardiovascular conditions.
Main Results:
- OI patients exhibited significantly increased SHRs for mitral valve regurgitation (6.3), aortic valve regurgitation (4.5), atrial fibrillation/flutter (1.7), and heart failure (2.3).
- No increased risk was observed for arterial aneurysms or dissections.
Conclusions:
- Patients with Osteogenesis Imperfecta (OI) have a confirmed elevated risk of cardiovascular disease (CVD) compared to the general population.
- The study suggests that the underlying collagenopathy in OI may contribute to the pathogenesis of CVD.
- Limitations include the lack of detailed clinical phenotype and genotype information.
Background:
Osteogenesis imperfecta (OI) is a hereditary connective tissue disease often due to mutations in genes coding for type 1 collagen. Collagen type 1 is important in the development of the heart and vasculature. Little is known about the risk of cardiovascular disease (CVD) in OI.
Objective:
To investigate the risk of symptomatic CVD in OI.
Design:
A Danish nationwide, population-based and register-based longitudinal open cohort study.
Participants:
All patients registered with the diagnosis of OI from 1977 to 2013 and a reference population matched 5:1 to the OI cohort.
Measurements:
Sub-hazard ratios for mitral and aortic valve regurgitation, atrial fibrillation and flutter, heart failure and vascular aneurisms and dissections comparing the OI cohort to the reference population.
Results:
We identified 687 cases with OI (379 women) and included 3435 reference persons (1895 women). The SHR was 6.3 [95% CI: 2.5-15.5] for mitral valve regurgitation, 4.5 [95% CI: 1.4-13.9] for aortic valve regurgitation, 1.7 [95% CI: 1.1-2.8] for atrial fibrillation/flutter, and 2.3 [95% CI: 1.4-3.7] for heart failure. The SHRs were not increased arterial aneurisms or dissections.
Limitation:
Our results were limited by lacking clinical information about phenotype and genotype of the included patients.
Conclusion:
We confirm that patients with OI have an increased risk of CVD compared to the general population. This held true even when adjusting for factors that are known to contribute to development of these diseases. Our results suggest that the collagenopathy seen in OI may be part of the pathogenesis of CVD in OI.
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