Ryanodine receptor 2 mutations in catecholaminergic polymorphic ventricular tachycardia: From molecular mechanisms to precision medicine

Core Tip

Core Tip: Catecholaminergic polymorphic ventricular tachycardia serves as a paradigm of precision cardiology in which a mechanistic unravelling of the ryanodine receptor 2-mediated calcium ion channel abnormality helps in formulating a genotype-oriented treatment approach. Recent studies regarding the pathopharmacology of store overload-induced calcium ion release, together with mitochondrial interactions, posit the possibility of a more complex pathophysiology than the classic electrical disorders. Recent milestones in the application of the clustered regularly interspaced short palindromic repeats gene editing tool together with artificial intelligence-assisted diagnostic techniques in association with a personalized form of pharmacotherapy have resulted in the successful treatment of 80%-90% of the affected subjects.