Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 02-12-2013
Symbol VTSIP2
Location 1q42.1-q43
Name ventricular tachycardia, catecholaminergic polymorphic 2
Other name(s) ventricular tachycardia, stress-induced, polymorphic
Corresponding gene CASQ2
Other symbol(s) PVT, CPVT2
Main clinical features
  • syncope seizures or sudden death
  • catecholaminergic polymorphic ventricular tachycardia (CPVT), and also bradycardia and atrial arrhythmias
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name calsequestrin 2
  • loss of CASQ2 causes abnormal sarcoplasmic reticulum Ca2+ release and selective interstitial fibrosis in the atrial pacemaker complex, which disrupt sinoatrial node (SAN) pacemaking but enhance latent pacemaker activity, create conduction abnormalities and increase susceptibility to atrial fibrillation (AF) (PMID: 24216388))