Genes related to catecholaminergic polymorphic ventricular tachycardia / 国际儿科学杂志

ABSTRACT

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a kind of common hereditary arrhythmia syndrome in adolescents.Its core is arrhythmia induced by adrenaline,and the root underlying cause of the arrhythmia is rapid ventricular tachycardia (bidirectional or polymorphic).The CPVT patient often has no obvious clinical manifestations,and almost normal in examinations,which may lead to missed diagnosis and misdiagnosis.Gene detection may be a classical and reliable diagnostic method.It has been found that mutation genes related to CPVT include Ryanodine receptor 2,Calsequestrin 2,and their mutations affect calcium homeostasis,causing electrophysiological abnormalities of cardiomyocytes,overloading calcium ions in cardiomyocytes,leading to the delayed depolarization of cardiomyocytes and further induction of ventricular arrhythmias.In this review,we summarize the mutations of ryanodine receptor 2,calsequestrin 2 and other possible genes related to CPVT,which is helpful for clinical precise treatment and exploration of the molecular mechanism of CPVT.