title: A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations.
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.
authors.affiliation: Department of Cardiology, Catharina Hospital Eindhoven, Eindhoven, the Netherlands. sdelafuente@hotmail.com
authors.forename: Sam
authors.initials: S
authors.lastname: de la Fuente
authors.forename: Irene M
authors.initials: IM
authors.lastname: Van Langen
authors.forename: Alex V
authors.initials: AV
authors.lastname: Postma
authors.forename: Henni
authors.initials: H
authors.lastname: Bikker
authors.forename: Albert
authors.initials: A
authors.lastname: Meijer
mesh_terms: D000328:Adult; D002155:Calsequestrin / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000235:genetics*
chemical_list: C443109:CASQ2 protein, human; D002155:Calsequestrin; D019837:Ryanodine Receptor Calcium Release Channel