Marcos García-Aguado

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We present the case of a family with a history of sudden cardiac death at a young age. The initial diagnosis was catecholaminergic polymorphic ventricular tachycardia (CPVT) caused by the p.L3778F mutation in the cardiac ryanodine receptor gene (RyR2). Several years after this initial diagnosis, a comprehensive family genetic study by next generation(More)
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