Dataset related to the article "Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation"

This record contains raw data related to the article “ Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation”. Plakophilin-2 (<em>PKP2</em>) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), a disease characterized by structural and electrical alterations predominantly affecting the right ventricular myocardium. Notably, ACM cases without overt structural alterations are frequently reported, mainly in the early phases of the disease. Recently, the <em>PKP2</em> p.S183N mutation was found in a patient affected by Brugada syndrome (BS), an inherited arrhythmic channelopathy most commonly caused by sodium channel gene mutations. We here describe a case of a patient carrier of the same BS-related <em>PKP2</em> p.S183N mutation but with a clear diagnosis of ACM. Specifically, we report how clinical and molecular investigations can be integrated for diagnostic purposes, distinguishing between ACM and BS, which are increasingly recognized as syndromes with clinical and genetic overlaps. This observation is fundamentally relevant in redefining the role of genetics in the approach to the arrhythmic patient, progressing beyond the concept of "one mutation, one disease", and raising concerns about the most appropriate approach to patients affected by structural/electrical cardiomyopathy. The merging of genetics, electroanatomical mapping, and tissue and cell characterization summarized in our patient seems to be the most complete diagnostic algorithm, favoring a reliable diagnosis.本数据集包含与题为《携带布鲁格达综合征（Brugada Syndrome, BS）相关PKP2突变携带者的分子数据可明确致心律失常性心肌病（Arrhythmogenic Cardiomyopathy, ACM）诊断》的文章相关的原始数据。斑珠蛋白2（Plakophilin-2, PKP2）是致心律失常性心肌病中突变检出率最高的桥粒基因；该病以主要累及右心室心肌的结构与电生理异常为核心特征。值得关注的是，无明显结构异常的ACM病例在疾病早期阶段屡见报道。近期，研究人员在一例布鲁格达综合征患者体内检出PKP2 p.S183N突变；布鲁格达综合征是一类遗传性心律失常性通道病，其最常见的致病原因为钠通道基因（Sodium Channel Gene）突变。本文报道一例携带上述与BS相关的PKP2 p.S183N突变，但最终明确诊断为ACM的病例。具体而言，本文阐述了如何整合临床与分子检测手段以实现精准诊断，区分ACM与BS——这两种综合征目前已被越来越多的研究证实存在临床与遗传层面的重叠。该病例观察结果对重新定义遗传学在心律失常患者诊疗中的应用价值具有重要意义，打破了“一种突变对应一种疾病”的传统认知，同时也为结构性/电生理性心肌病患者的最优诊疗方案带来了新的思考。本病例中整合遗传学检测、电解剖标测（Electroanatomical Mapping）以及组织与细胞特征分析的诊疗思路，似乎是目前最为完善的诊断流程，可助力实现可靠的临床诊断。