Grant: Team Grant: E-Rare Joint Transnational Call

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a heart condition that lies dormant until something triggers abnormally fast and irregular heart rhythms, called arrhythmias, which can result in death. Most often these arrhythmias occur during exercise or times of intense emotion. CPVT is an inherited condition that affects about 1 in every 10,000 people and is currently difficult to diagnose. It is thought that errors in the genetic blueprint for proteins responsible for regulating the amount of calcium in and out of heart muscle cells and maintaining a regular heart beat leads to CPVT. Not everyone with these genetic errors has arrhythmias or dies from CPVT. At present, we do not sufficiently understand the differences among people with CPVT or what causes life-threatening events to happen when they do. Treatments for CPVT are currently limited and may not be effective nor do we know if someone is at risk of death or not. Our goal is to be able to determine whether someone is at risk, to be able to treat people with CPVT and prevent any life-threatening events from happening. To achieve our goal, we have assembled a research team of scientists and clinicians who are experts in CPVT. Together, our research will lead to a better understanding of the causes and factors that affect arrhythmia risk and treatment in CPVT. We will also develop tools to help health care providers determine the best management strategy for people with CPVT. This research will lead to better care of patients with CPVT, support future research and discovery and save lives.