Figure 1.

Genotype and phenotype of a female patient carrying the CPVT-associated RyR2 mutation of c.14251A>C (K4750Q). (A) Genetic testing. Family pedigree (left) and genotyping of the proband (right). Holter ECG monitored with leads CC5 and mV1. (B) ECG monitoring. This patient exhibited atrial tachycardia (top, see P waves on right half recording) and subsequent VT (bottom, entire record) while walking upstairs.

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