Abstract
There is an increased incidence of cardiovascular disease in osteogenesis imperfecta (OI), though its exact prevalence is not known. Because type I collagens are widely present in cardiac valves, ventricles, and vasculature, clinicians should be wary of associated conditions. These include valve insufficiency, heart failure, aortic aneurysm, and arterial dissection. Murine models with Col1a1 and Col1a2 mutations help to identify the cardiovascular manifestations that are predicted to occur in pelople with OI. Human population studies are also informative, but longitudinal studies are inherently limited by relatively small numbers. The pathophysiology of cardiovascular diseases in OI is poorly understood, but similar phenotypic features in other heritable disorders of connective tissue suggest that extracellular collagens may regulate growth factor signaling. Surgery for severe cardiovascular complications in OI should be considered in the context of associated risks, such as difficulties with airway access, bone fracture, poor wound healing, fragile capillaries, and platelet dysfunction.
Original language | English (US) |
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Title of host publication | Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease |
Publisher | Elsevier Inc. |
Pages | 329-334 |
Number of pages | 6 |
ISBN (Print) | 9780123971654 |
DOIs | |
State | Published - Sep 2013 |
Keywords
- Aorta
- Cardiac lesions
- Cardiac treatment
- Heart valve
ASJC Scopus subject areas
- General Medicine
- General Dentistry