A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations.
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.
de la Fuente
Sam
S
Department of Cardiology, Catharina Hospital Eindhoven, Eindhoven, the Netherlands. sdelafuente@hotmail.com
Van Langen
Irene M
IM
Postma
Alex V
AV
Bikker
Henni
H
Meijer
Albert
A
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*
C443109:CASQ2 protein, human; D002155:Calsequestrin; D019837:Ryanodine Receptor Calcium Release Channel