儿茶酚胺能多态性室性心动过速伴不常见的 CALM2 基因突变的罕见病例报告

Kimberly R Ding, Angelo L de la Rosa, Duc Do, Sonia U. Shah
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引用次数: 0

摘要

儿茶酚胺能多形性室性心动过速(CPVT)是一种原发性心律失常疾病,以晕厥或心脏性猝死为特征,通常由 Ryanodine 受体 2 型(RyR2)功能增益突变引起。钙调蛋白是一种钙结合蛋白,负责许多细胞内信号通路,其功能或调节紊乱可能导致潜在的致命性心律失常。我们介绍了一例年轻 CPVT 患者的病例,该患者的钙调素 2- 蛋白编码基因(CALM2)发生了异常突变,可能是致病基因。 一名患有自闭症的 21 岁女性在心脏骤停后被送到急诊室。心电图(ECG)显示患者出现双向室性心动过速(VT)。开始使用普萘洛尔后,患者没有再出现室性心律失常。植入了皮下植入式心律转复除颤器(ICD),并进行了进一步的遗传学检测。快速全基因组测序 PGnome®- RAPID)结果显示,CALM2 基因 NM_001743.5 中的 c.136G>A 变异为意义不确定的杂合变异。 据作者所知,这是国际钙调蛋白注册中心(International Calmodulin Registry)(n=74)已知的第三个此类变异记录。鉴定 CALM 基因突变有助于促进对心律失常遗传基础的了解,并强调基因筛查和个性化治疗策略的必要性。皮下 ICD 提供了一种前景广阔的治疗选择,同时将传统经静脉 ICD 的相关风险降至最低。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Rare Case Report of Catecholaminergic Polymorphic Ventricular Tachycardia with an Uncommon CALM2 Mutation
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a primary arrhythmia disorder characterized by syncope or sudden cardiac death and typically caused by a gain-of-function of the Ryanodine Receptor Type 2 (RyR2) mutation. Calmodulin is a calcium-binding protein responsible for many intracellular signaling pathways and disruptions in function or regulation may lead to potentially fatal arrhythmias. We present a case of a young patient with CPVT found to have an unusual, potentially causative, Calmodulin 2- a protein coding gene (CALM2) mutation. A 21-year-old female with autism was brought to the ED following cardiac arrest. Bidirectional ventricular tachycardia (VT) was captured on electrocardiogram (ECG). Propranolol was initiated and patient had no further episodes of ventricular arrhythmia. A subcutaneous implantable cardioverter defibrillator (ICD) was implanted and further genetics testing was done. Rapid Whole Genome Sequencing PGnome®- RAPID) resulted heterozygous variant of uncertain significance in CALM2 gene NM_001743.5 for variant c.136G>A. To the authors’ knowledge, this is the third known record of such mutation in accordance with the International Calmodulin Registry (n=74). Identification of CALM mutations can help advance the understanding of genetic underpinnings of arrhythmias and underscore necessity of genetic screening and personalized treatment strategies. Subcutaneous ICDs offer a promising therapeutic option while minimizing risks associated with traditional transvenous ICDs.
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