儿茶酚胺能多态性室性心动过速的精准医疗:个性化治疗的最新进展。

IF 0.9 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Annals of Pediatric Cardiology Pub Date : 2023-11-01 Epub Date: 2024-04-23 DOI:10.4103/apc.apc_96_23
Anthony Siu, Edelyne Tandanu, Brian Ma, Evbayekha Endurance Osas, Haipeng Liu, Tong Liu, Oscar Hou In Chou, Helen Huang, Gary Tse
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引用次数: 0

摘要

儿茶酚胺能多态性室性心动过速(CPVT)是一种罕见的遗传性心脏离子通道病变,最初发病年龄在儿童或青少年阶段,导致心脏性猝死的风险增加。尽管医学科技在不断进步,但人们对 CPVT 患者的分子机制、风险预测和治疗管理的认识仍存在一些差距。最近的研究发现并验证了导致各种 CPVT 表型的七组基因,包括 RyR2、CASQ-2、TRDN、CALM1、2 和 3 以及 TECRL,为分子机制提供了新的见解。然而,还需要更多关于非典型 CPVT 基因型的数据来进一步研究其潜在机制。潜在遗传学的复杂性导致了风险分层的挑战以及非遗传修饰因子的不确定性。在治疗方面,虽然使用β-受体阻滞剂和非卡尼或植入式心脏除颤器的药物治疗仍是主要手段,但有关 CPVT 基因治疗的动物和干细胞研究已显示出良好的效果。然而,其临床适用性仍不明确。目前的基因治疗研究主要集中在 RyR2 和 CASQ-2 变体上,这两种变体占所有 CPVT 病例的 75%。针对更广泛人群的替代方法(如 CaMKII 抑制)在临床应用中可能更加可行。综上所述,本综述介绍了 CPVT 的最新研究进展,强调了进一步研究这种潜在致命疾病的分子机制、风险分层和治疗管理的必要性。
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Precision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac ion channelopathy where the initial disease presentation is during childhood or adolescent stages, leading to increased risks of sudden cardiac death. Despite advances in medical science and technology, several gaps remain in the understanding of the molecular mechanisms, risk prediction, and therapeutic management of patients with CPVT. Recent studies have identified and validated seven sets of genes responsible for various CPVT phenotypes, including RyR2, CASQ-2, TRDN, CALM1, 2, and 3, and TECRL, providing novel insights into the molecular mechanisms. However, more data on atypical CPVT genotypes are required to investigate the underlying mechanisms further. The complexities of the underlying genetics contribute to challenges in risk stratification as well as the uncertainty surrounding nongenetic modifiers. Therapeutically, although medical management involving beta-blockers and flecainide, or insertion of an implantable cardioverter defibrillator remains the mainstay of treatment, animal and stem cell studies on gene therapy for CPVT have shown promising results. However, its clinical applicability remains unclear. Current gene therapy studies have primarily focused on the RyR2 and CASQ-2 variants, which constitute 75% of all CPVT cases. Alternative approaches that target a broader population, such as CaMKII inhibition, could be more feasible for clinical implementation. Together, this review provides an update on recent research on CPVT, highlighting the need for further investigation of the molecular mechanisms, risk stratification, and therapeutic management of this potentially lethal condition.

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来源期刊
Annals of Pediatric Cardiology
Annals of Pediatric Cardiology CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
1.40
自引率
14.30%
发文量
51
审稿时长
23 weeks
期刊最新文献
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