Clinical Diagnosis of Calcium Release Deficiency Syndrome in a Family With Sudden Cardiac Death

Can the calcium release deficiency syndrome (CRDS) burst pacing provocation test be used to diagnose a family with hitherto unexplained sudden cardiac arrest and death?In this case series of a 5-generation family, 5 carriers of a novel RYR2-p.Glu336Gly variant demonstrated diagnostic T-wave augmentation with burst pacing or following spontaneous arrhythmia. The novel variant was then confirmed to result in loss of function by functional analysis.The provocation test enabled clinical diagnosis of CRDS and may provide a pragmatic tool for evaluating families where access to in vitro testing is limited.

Corresponding Author: Rafik Tadros, MD, PhD, Montreal Heart Institute, 5000 Rue Bélanger, Montreal, QC H1T 1C8, Canada (rafik.tadros@umontreal.ca).

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