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Table 3 Pathogenic gene mutations associated with CPVT variants

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

Dysregulation of calcium homeostasis [57, 132]

CPVT2

7p22-p14 chromosome anomaly [133]

?

?

CPVT3

CALM

Calmodulin

Calcium overload [57, 134, 135]

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