Abstract

Thanks to the contribution of molecular genetics, the genetic bases, the pathogenesis and genotype-phenotype correlation of diseases such as the long QT syndrome and catecholaminergic polymorphic ventricular tachycardia have been progressively unveiled and show an extremely high degree of genetic heterogeneity. Data from clinical registries are summarized together with the recommendations provided in clinical practice guidelines for management of patients with these diseases. Furthermore the evidence supporting the importance of genetic analysis for risk stratification and therapy selections is reviewed.

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