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Cardiovascular Report - A Study to Assess Cardiovascular Risks in Osteogenesis Imperfecta Patients

Cardiovascular Report Winter 2013

A Study to Assess Cardiovascular Risks in Osteogenesis Imperfecta Patients

Date: February 19, 2013

Bone fractures, musculoskeletal disorders and joint problems are the hallmarks of osteogenesis imperfecta (OI). Yet some OI patients also have serious cardiac problems related to their disease, including mitral valve prolapse, aortic valve insufficiency and dilation of the aorta. While there have been individual case reports of cardiovascular disease and cardiac surgery complications among OI patients, the overall occurrence of cardiovascular disease in that population is not known. 

Now, to better understand the risks and develop criteria for screening and treatment, a multidisciplinary team of Johns Hopkins specialists has launched the first coordinated clinical study of cardiovascular disease in pediatric and adult OI patients.

“Our goal is to improve our ability to diagnose and treat cardiovascular risks among our patients,” says principal investigator Jay Shapiro, director of the Osteogenesis Imperfecta Clinic at Johns Hopkins’ neighboring institution, the Kennedy Krieger Institute. “We don’t currently know the incidence or characteristics of heart and vascular disease in the OI population.”

OI is a genetic disorder that impairs the production of type 1 collagen, Shapiro says. While heart problems are a dominant feature in other connective tissue diseases, such as Marfan syndrome, for an unknown reason they are not as prominent in OI. But they can be as serious.

When it comes to valve repair or replacement for OI patients, cardiac surgery chief and co-investigator Duke Cameron says there has been a general concern that heart surgery is too risky because of worries that the tissue would be too fragile or that the sternum might not heal. However, Cameron says in his experience, the surgery can be performed safely and his patients have all done well.

“By collecting data from other institutions,” says Cameron, “we will see if they have had similar results.

All study participants will fill out a questionnaire asking them about cardiovascular issues. Some also will have a clinical evaluation with echocardiography to assess the aortic root, carotid ultrasound to determine thickness of the vessel wall, and a brachial artery reactivity test to assess endothelial function.

“With these imaging tests, we are working to characterize some of the cardiac features among OI patients and see if there are some patterns of increased risk,” says cardiologist Mary Corretti, the medical director of the adult echocardiography laboratory at Johns Hopkins and one of the co-investigators. “We want to see if there are some subtypes of OI patients who have particular anatomic cardiac abnormalities detectable by echo, or markers of cardiac risk factors for atherosclerosis.”

The other co-investigators are Emily Germain-Lee, Daniel Judge and James Black.

For more information on the study, contact Pamela Melvin, OI nurse clinician at 443-923-2707 or