This narrative review comprehensively summarizes the genetic basis, particularly RyR2 and CASQ2 mutations, and pathophysiological mechanisms of CPVT to inform diagnosis and treatment.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially lethal inherited arrhythmia syndrome. It is characterized by exercise- or emotion-induced bidirectional or polymorphic ventricular tachycardia, which can lead to recurrent syncope and even sudden death. CPVT is mainly caused by mutations in genes related to calcium homeostasis regulation, with ryanodine receptor 2 and calsequestrin 2 gene mutations being the most common. In recent years, with the development of molecular biology techniques and in-depth clinical research, the understanding of CPVT has been continuously deepened. This review summarizes the latest advances in CPVT research, focusing on molecular genetic mechanisms, pathogenesis, clinical manifestations, diagnostic approaches, and treatment strategies. We examine the complex interplay between genetic mutations and arrhythmogenic mechanisms, highlighting insights from heterologous, animal, and human induced pluripotent stem cell-derived models. The review also addresses current therapeutic approaches, from pharmacological interventions to device therapy and sympathetic denervation, while exploring future research directions that may lead to improved patient outcomes through gene-specific and precision medicine approaches.
Luo et al. (Mon,) studied this question.