Table 4.
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Name | Current | Gain/loss of function | Protein | Gene | Reference |
---|---|---|---|---|---|
CPVT1 | Irel | Leak | RyR2 | RyR2 | Laitinen et al,106 Priori et al107 |
CPVT2 | Irel | Leak | Calsequestrin | CASQ2 | Lahat et al,108 Postma et al109 |
CPVT3 | IK1 | Loss | Kir2.1 | KCNJ2 | Tester et al,22 Postma et al110 |
CPVT4 | INCX, INaK, InsP3R | Loss | Ankyrin-B | ANKB | Mohler et al111 |
Abbreviations: RyR2, ryanodine receptor; Irel, RyR2 Ca2+ release current; IK1, inward-rectifier potassium current; INCX, Na+/Ca2+ exchanger current, INaK, Na+/K+ ATPase (pump) current; InsP3R, inositol 1,4,5-trisphosphate (IP3) receptors.