Key result
Catecholaminergic polymorphic ventricular tachycardia is an inherited arrhythmogenic disorder caused by mutations in RyR2 and CASQ2 genes leading to intracellular calcium derangements.
This review summarizes the genetic and molecular mechanisms underlying CPVT, highlighting the role of RyR2 and CASQ2 mutations in intracellular calcium mishandling.
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Animal CPVT models on RyR2/CASQ2 should not guide therapy; leaves open need for human mechanistic validation.
Mohamed et al. (2007) conducted a review in Catecholaminergic polymorphic ventricular tachycardia (CPVT). Catecholaminergic polymorphic ventricular tachycardia is an inherited arrhythmogenic disorder caused by mutations in RyR2 and CASQ2 genes leading to intracellular calcium derangements.
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