Understanding CPVT pathogenic mechanisms based on mutation location within RyR2: towards personalized medicine?

Abstract excerpt

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmic disorder that typically presents as syncope or sudden cardiac death (SCD), most often in children and young adults during physical or emotional stress. The heart shows no signs of structural cardiac disease. This disorder belongs to the so-called channelopathies. There are several types of CPVT, depending on the affected gene,...

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