Genetics, manifestations, and management of catecholaminergic polymorphic ventricular tachycardia.

IF 2 4区医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS Current Opinion in Cardiology Pub Date : 2025-01-21 DOI:10.1097/HCO.0000000000001202

Shubh Desai, Oliver M Moore, Xander H T Wehrens

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Abstract

Purpose of review: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a devastating heritable channelopathy that can lead to sudden cardiac death in children and young adults. This review aims to explore genetics, the cardiac and extracardiac manifestations of mutations associated with CPVT, and the challenges involved with managing phenotypically variable variants.

Recent findings: The understanding of the genetics and mechanisms of CPVT continues to grow with recent discoveries including alternative splicing of cardiac TRDN and calmodulin gene variants. Additionally, there is an increasing recognition of the extra-cardiac manifestations such as epilepsy, neurodevelopmental delay, and glucose homeostasis abnormalities in RyR2 variant carriers. Advances in precision medicine, including the development of iPSC-derived cardiomyocytes, are valuable models for developing targeted therapeutics.

Summary: CPVT remains a complex disorder with cardiac and neurological manifestations impacting management. Early genetic testing and personalized treatment, including beta-blockers, flecainide, and ICDs, is important in improving outcomes. Ongoing research into the mechanism of each mutation will help in developing more effective, personalized therapeutics.

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儿茶酚胺能多形性室性心动过速的遗传学、表现和管理。

回顾目的：儿茶酚胺能多形性室性心动过速（CPVT）是一种破坏性的遗传性通道病，可导致儿童和年轻人的心源性猝死。本综述旨在探讨与CPVT相关的基因、心脏和心外突变的表现，以及管理表型可变变异所涉及的挑战。最近的发现：对CPVT的遗传学和机制的理解随着最近的发现不断增长，包括心脏TRDN和钙调蛋白基因变异的选择性剪接。此外，越来越多的人认识到RyR2变异携带者的心脏外表现，如癫痫、神经发育迟缓和葡萄糖稳态异常。精准医学的进步，包括ipsc衍生心肌细胞的发展，为开发靶向治疗提供了有价值的模型。总结：CPVT仍然是一种复杂的疾病，其心脏和神经系统的表现影响着治疗。早期基因检测和个性化治疗，包括-受体阻滞剂、氟氯胺和icd，对改善预后很重要。对每种突变机制的持续研究将有助于开发更有效、更个性化的治疗方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Opinion in Cardiology 医学-心血管系统

CiteScore

4.20

自引率

4.30%

发文量

审稿时长

6-12 weeks

期刊介绍： Current Opinion in Cardiology is a bimonthly publication offering a unique and wide ranging perspective on the key developments in the field. Each issue features hand-picked review articles from our team of expert editors. With fourteen disciplines published across the year – including arrhythmias, molecular genetics, HDL cholesterol and clinical trials – every issue also contains annotated reference detailing the merits of the most important papers.

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