OI:OI and Heart Research Project Seeks Participants

05.18.2012—We wish to inform you of a research study about heart problems in OI that we are conducting in the Osteogenesis Imperfecta Program at the Kennedy Krieger Institute (IRB Protocol#NA_00037615). We invite your participation in this study.

The OI Registry, sponsored by the Kennedy Krieger Institute and the OI Foundation, contains the following question: “Have you or your family member had surgery on the aortic or mitral valve?” 127 of a sample of 1798 registered individuals (7.06%) gave a positive response to this question. However, current information about heart disorders in OI children and adults has not been systematically approached: the real occurrence of heart valve or aortic disease or the risk of hardening of the arteries is unknown. Also, information about current cardiac surgical methods or surgical outcomes applicable to OI patients is not available.

In order to better understand possible heart conditions in OI, the Bone and Osteogenesis Imperfecta Department at the Kennedy Krieger Institute plans to evaluate the condition of children and adults with heart problems: heart valve problems, problems with the aorta or other blood vessel problems. Also, we want to learn more about heart surgery in OI patients, and the results after heart surgery. We are hopeful that the information we gain will improve heart diagnosis and care for OI patients.

The research study has two parts:

 

  1. Participants in the OI Registry will be asked to complete a questionnaire about heart problems and prior heart surgery, if applicable.
  2. Or, participants may come to the OI Clinic at the Kennedy Krieger Institute to receive the following assessments: history and physical examination, echocardiography to evaluate valvular and myocardial function, and aortic dimensions, lipid profile, brachial artery dilatation study to assess endothelial cell function, and carotid artery medial wall thickness measurement to define atherosclerotic risk. Collagen gene mutation analysis will be performed where missing.

 

This study will enroll 100 individuals with OI. If you are currently a patient, all procedures can be scheduled during your regular clinic visit.

If you wish additional information, please contact Pamela Melvin, RN, at the Kennedy Krieger Institute Bone and OI Department at: (443)923-2707.

Approved September 22, 2011

Appointments & Referrals

FIND A SPECIALIST

Publications

Read inspiring stories, news and updates about the Institute's patient care, research, special education, professional training, and community programs.

 

Resource Finder

 

A free resource that provides access to information and support for individuals and families living with developmental disabilities.