From: Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies
Mutated gene | Encoded protein | Functional alteration | CPVT variant |
---|---|---|---|
RyR2 | Cardiac ryanodine receptor involved in calcium release from the sarcoplasmic reticulum, mediating excitation–contraction coupling | Increase of spontaneous intracellular calcium, oscillations, delayed after-depolarizations, and spatial heterogeneity of repolarization, leading to polymorphic ventricular tachycardia [31, 57] | CPVT1 |
CASQ2 | Calsequestrin, a regulatory protein associated with the ryanodine receptor | CPVT2 | |
7p22-p14 chromosome anomaly [133] | ? | ? | CPVT3 |
CALM | Calmodulin | CPVT4 | |
TRDN | Triadin, a protein that connects calsequestrin to the ryanodine receptor stabilizing the calcium channel | Diastolic calcium leak and calcium overload in myocytes [57] | CPVT5 |