Grant: Project Grant

Hypertrophic cardiomyopathy (HCM) is the leading cause of sudden death in young apparently healthy individuals. It is a genetic disease where complications can be prevented with early diagnosis. Genetic testing using a blood sample is now routinely done in family members to assess the risk of developing disease. Current genetic testing techniques do not take into consideration the complex genetics of HCM. As such, current testing does not provide a proper estimation of risk of developing disease as well as risk of developing complications. Recent data identified common genetic variants called SNPs that are associated with HCM. We propose that assessing such variants can provide better estimation of disease risk in family members and complication risk in those who are affected by HCM. The proposed study is a collaboration between experts in genetics, heart imaging and cardiology from 16 cardiac genetics clinics in North America. A blood sample will be drawn from the ~1800 participants and evaluation of ~10 million different SNPs will be done using state of the art technology. The association of those SNPs with HCM and its complications will be assessed. Those SNPs associated with HCM and its complications can then be used in clinic to provide the patient and his doctor a precise estimation of disease risk. This approach will allow a personalization of treatment and preventive measures according to the patient's genetic code. Along the way, from study design to clinical implementation, the research group will involve patients with HCM as research partners.