Evaluation of a Novel Diagnostic Test for Calcium Release Deficiency Syndrome

Research summary

Millions of people suffer due to cardiac arrest every year and in many cases, the cause of the cardiac arrest is related to a disorder of the electrical activity of the heart. Calcium Release Deficiency Syndrome (CRDS) is a recently discovered electrical heart disorder that develops due to a genetic change in the RyR2 gene resulting in the low activity of RyR2 protein. Currently, CRDS needs genetic testing to be diagnosed and then the identified RyR2 genetic change needs to undergo assessment in a science laboratory to confirm it causes a loss-of-function. Most healthcare practitioners and patients do not have access to a basic science laboratory with this expertise. Based on preliminary observations in CRDS patients and mouse models, we believe that we may have identified a method to diagnose CRDS through clinical testing. Specifically, CRDS patients appear to develop abnormal cardiac repolarization (characterized by QT prolongation associated with a broad and tall T-wave) following brief tachycardia and a subsequent pause. Notably, this repolarization response appears specific to CRDS patients. In order to further evaluate this as a potential clinical diagnostic test for CRDS, we plan to observe the electrical response of the heart following a brief fast heart rate mediated through cardiac pacing in CRDS patients, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) patients, survivors of Unexplained Cardiac Arrest (UCA) patients who don't have underactive RyR2 gene variant, and suspected supraventricular tachycardia (SVT) patients undergoing an invasive electrophysiology study.

Principal Investigator

Dr Julian Ormerod

Contact us

Email: oxfordheartresearch@ouh.nhs.uk

IRAS number

328019