Osteogenesis imperfecta

Others

• OI from the cellular and molecular perspective
• The bone in OI
• Other orthopedic disorders caused by OI
• Oro-cranial disorders in OI
• Hearing in OI
• Vision and OI
• Other clinical features of OI
  • 1. The heart in OI
  • 2. The lungs in OI
  • 3. Other clinical manifestations
  • 4. OI and pregnancy
  • Summary chapter 7
• Results of the study about osteogenesis imperfecta (Rare Commons)

Summary chapter 7

• Cardiovascular complications in OI patients are rare, but alterations of the heart valves (valvular insufficiency, valve prolapse, bicuspid aortic valve) and/or large vessels such as the aorta (dilatation, aneurysm or aortic dissection) have been described.
• At the pulmonary level, the main respiratory problems in OI are usually due to alterations of the rib cage due to deformities of the spine and ribs, resulting in decreased lung capacity and increased risk of infections.
• Lung connective tissue, rich in collagen, may be altered in OI and interfere with proper gas exchange in the lungs. Sleep apnoea has also been associated with OI.
• In some patients there may be manifestations at other levels, such as thinner and more translucent skin, a slightly increased risk of bleeding, a tendency to constipation, slightly weaker muscles or a characteristic high-pitched voice.
• More severe forms of OI with short stature and deformities of the spine and/or rib cage may have an increased risk of complications during pregnancy, so pregnancy should be properly planned and monitored.

Last modified

31 August 2023