Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation [Original Articles]

Conclusions:
Current expert recommendations have resulted in increased use of RYR2 genetic testing in patients with questionable clinical phenotypes. Using the largest to date catecholaminergic polymorphic ventricular tachycardia patient versus control comparison, this study highlights important variables in the interpretation of variants to overcome the 3.2% background rate that confounds RYR2 variant interpretation.

Source: Circulation: Cardiovascular Genetics - February 16, 2018 Category: Cardiology Authors: Kapplinger, J. D., Pundi, K. N., Larson, N. B., Callis, T. E., Tester, D. J., Bikker, H., Wilde, A. A. M., Ackerman, M. J. Tags: Arrhythmias, Sudden Cardiac Death, Genetics Original Articles Source Type: research