Cardiovascular abnormalities in adults with osteogenesis imperfecta
Zoran Radunovic1, Lena L Wekre, Lien M Diep
1Oslo University Hospital-Aker, Norway. zoran.radunovic@medisin.uio.no
American Heart Journal
|March 12, 2011
Summary
Adults with osteogenesis imperfecta (OI) show increased left ventricular (LV) size and mass, alongside aortic dilatation. These cardiac abnormalities, including mitral regurgitation and aortic regurgitation (AR), are more pronounced in type III OI patients.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones.
- Cardiac abnormalities are increasingly recognized in adults with OI.
- Understanding these cardiac manifestations is crucial for comprehensive patient management.
Purpose of the Study:
- To investigate cardiac abnormalities in adults diagnosed with osteogenesis imperfecta (OI).
- To compare cardiac measurements between OI patients and a healthy control group.
- To assess differences in cardiac findings among different clinical types of OI (I, III, and IV).
Main Methods:
- A clinical and echocardiographic survey was conducted on 99 adults with OI (types I, III, IV) and 52 controls.
- Standard echocardiography was used to measure left ventricular end-diastolic dimensions (LVIDd) and mass, indexed for body surface area.
- Four aortic diameters were also measured and indexed for body surface area.
Main Results:
- The OI group exhibited significantly larger LVIDd and LV mass compared to controls.
- All measured aortic diameters were significantly larger in the OI group versus controls.
- Type III OI patients showed significantly enlarged LVIDd and aortic diameters compared to types I and IV OI.
- Hypertension was noted in 37.4% of OI individuals. Mild to moderate aortic regurgitation (AR) and moderate mitral regurgitation were observed.
Conclusions:
- Adult patients with osteogenesis imperfecta (OI) demonstrate increased LVIDd, LV mass, and aortic dimensions compared to controls.
- The observed cardiac changes, including mitral regurgitation and AR, are more pronounced in type III OI.
- These findings highlight the importance of cardiac surveillance in adults with OI.
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