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Updated: Jul 3, 2026

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
Published on: December 22, 2023
A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations
Sam de la Fuente1, Irene M Van Langen, Alex V Postma
1Department of Cardiology, Catharina Hospital Eindhoven, Eindhoven, the Netherlands. sdelafuente@hotmail.com
Abstract:
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an uncommon heritable disease presenting with syncope or sudden cardiac death. Two genes involved in calcium homeostasis, the ryanodine receptor gene and the calsequestrin 2 (CASQ2) gene, have been implicated in this disease. We describe a young man presenting with exercise-induced syncope, clinically diagnosed as CPVT. Genetic analysis revealed two mutations, p.Y55C (c.164A>G) and p.P308L (c.923C>T), in the CASQ2 gene. Subsequent familial analysis indicates a compound heterozygous form of inheritance.
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