Assessing Cardiovascular Risk in Osteogenesis Imperfecta Patients
Date: March 1, 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, 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, which is found not only in bone but also in the heart and blood vessels, 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.
All study participants will fill out a questionnaire asking them about previous or current cardiovascular issues and whether they’ve taken medications or had surgery for heart-related problems. 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 osteogenesis imperfecta 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.”
Shapiro says, “Already, in our study, we have found that carotid arterial dissection may be an underappreciated risk factor for young adults with OI.”
The other co-investigators are Emily Germain-Lee, Daniel Judge, Duke Cameron and James Black.
About 25,000 people in the United States have been diagnosed with OI, and Shapiro says an equal number probably are not aware that they have it, since the first sign usually is a fracture.
For more information on the study, contact Pamela Melvin, OI nurse clinician, at 443-923-2707 or Melvinp@kennedykrieger.org.