Grant: CIHR-ICRH Travel Awards - ICRH / Vascular pool

Sudden cardiac arrest (SCA) is a devasting heart event with a 10% survival rate. In young persons and athletes, inherited arrhythmias may account for up to 50% of unexplained SCA cases. In 2021, a distinct inherited arrhythmia syndrome, called calcium release deficiency syndrome (CRDS), was described in patients carrying loss-of-function RyR2 variants. These patients present with SCA but appear normal on the exercise stress test. As a newly discovered arrhythmia syndrome, there is a tremendous gap in knowledge about disease mechanisms, diagnostics, and appropriate treatments, which must be addressed to avoid preventable morbidity and mortality. We have developed, to our knowledge, the world's first human stem-cell based heart model to understand the molecular mechanisms of this disease, perform "clinical trials in a dish" to identify candidate treatments, and test out various electrical stimulation protocols that could be applied in clinical electrophysiology (EP) labs.