A missense mutation in the CASQ2 gene is associated with autosomal-recessive catecholamine-induced polymorphic ventricular tachycardia.
Catecholamine-induced polymorphic ventricular tachycardia (CPVT), a rare disease that occurs in subjects without obvious organic heart disease, is characterized by episodes of syncope, seizures, or sudden death in response to physiologic or emotional stress. This report reviews evidence that a missense mutation in the CASQ2 gene is associated with autosomal-recessive CPVT.
Eldar
Michael
M
Heart Institute, Sheba Medical Center, Tel Hashomer, Israel. meldar@post.tau.ac.il
Pras
Elon
E
Lahat
Hadas
H
D002155:Calsequestrin / Q000235:genetics*; D002395:Catecholamines / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D017180:Tachycardia, Ventricular / Q000235:genetics* / Q000628:therapy
C443109:CASQ2 protein, human; D002155:Calsequestrin; D002395:Catecholamines