Grant: Project Grant

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart condition associated with life threatening heart rhythm disturbances in early/middle adulthood that affects more than 10,000 Canadians. ARVC is commonly associated with cardiac arrest and sudden cardiac death. Early diagnosis of ARVC can lead to effective treatment approaches, including exercise restriction, medical therapy and selective use of implantable cardioverter defibrillators (ICDs), a pacemaker-like device that can correct dangerous heart rhythms with a shock. Given the high risk for cardiac arrest and sudden death, and the benefit of early prevention, new methods for identifying those patients at risk are urgently needed. Our primary goal is to develop new methods for predicting which patients who have a genetic predisposition, or who have been diagnosed with ARVC, are at greatest risk of collapse and sudden death. To do this, we will use the proposed Canadian ARVC registry, which enrolls ARVC patients from 15 clinics across Canada. As a secondary goal, we will explore the impact of ARVC on the understanding, emotions and attitudes of patients and their families. We anticipate that this research will lead to: 1) The development of a risk score that can be used to treat ARVC patients, 2) An understanding of the effect of specific genes on the way in which ARVC presents and the risks of each gene finding, 3) A Better understanding of how the disease progresses, 4) Finding new factors that may modify the severity of the disease, particularly behaviors that increase the risk for sudden death (for example exercise), and 5) The ability to target the use of invasive and expensive ICDs, so they are implanted in the right people to prevent sudden death. The knowledge gained by these studies will be used to identify at-risk family members, offering earlier intervention and precise treatment to slow disease progression and to prevent sudden death.