Letter by Ruiz-Guerrero et al Regarding Article, “Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation”
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To the Editor:
We would like to congratulate Dr Kapplinger et al1 for their successful research article about genetic test interpretations implications in the study of RYR2 (ryanodine receptor 2) in suspected catecholaminergic polymorphic ventricular tachycardia (CPVT) and comment on some important aspects we find of interest.
The authors conclude that 13 new exons, added to the 8 previously reported in literature, were found to be spots of pathogenic variants, and they suggest that this information could be used together with clinical workup to mitigate the interpretive ambiguity of …