The Calcium Release Deficiency Syndrome (CRDS) is a rare disorder that can be a challenge to diagnose. Pathogenic variants of RYR2 gene need to be distinguished from more common benign variants.
Clinical features:
(1) family or personal history of sudden death and/or cardiac arrest
(2) mutation in the RYR2 gene (encodes the cardiac ryanodine receptor) with loss of function
(3) propensity for early afterdepolarizations
(4) long QTc
(5) Exclusion of other cardiac conditions: ventricular cardiomyopathy, known obstructive coronary artery disease, ventricular pre-excitation or long QT syndrome
Diagnostic tests:
(1) in vitro cellular-based assay of ventricular myocytes showing reduced spontaneous sarcoplasmic reticulum calcium release
(2) induction of ventricular arrhythmia by a long burst, long pause, short coupled (LBLPS) extra-stimulus
(3) induction of ventricular tachycardia with >= 150 beats per minute, with measurement of the T-wave amplitude on the post pause sinus beat. In CRDS the T-wave amplitude is > 0.250 mV
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