Dataset related to the article "Characteristics of Patients with Arrhythmogenic Left Ventricular Cardiomyopathy - Combining Genetic and Histopathologic Findings"

This record contains raw data related to the article “Characteristics of Patients with Arrhythmogenic Left Ventricular Cardiomyopathy - Combining Genetic and Histopathologic Findings”. <strong>Abstract</strong> <strong>Background: </strong>Arrhythmogenic left ventricular cardiomyopathy (ALVC) is an under-characterized phenotype of arrhythmogenic cardiomyopathy involving the LV ab initio. ALVC was not included in the 2010 International Task Force Criteria (ITFC) for arrhythmogenic right ventricular cardiomyopathy diagnosis and data regarding this phenotype are scarce. <strong>Methods: </strong>clinical characteristics were reported from all consecutive patients diagnosed with ALVC, defined as a LV isolated late gadolinium enhancement (LGE) and fibro-fatty replacement (FFR) at cardiac magnetic resonance (CMR) plus genetic variants associated with ARVC and/or of an endomyocardial biopsy (EMB) showing FFR complying with the 2010 ITFC in the LV. <strong>Results: </strong>twenty-five ALVC patients (53 [48–59] years, 60% male) were enrolled. T-wave inversion in infero-lateral and left precordial leads were the most common ECG abnormalities. Overall arrhythmic burden at study inclusion was 56%. CMR showed LV LGE in the LV lateral and/or posterior basal segments in all patients. In 72% of the patients an invasive evaluation was performed, in which electroanatomical voltage mapping (EVM) and EVM-guided EMB showed low endocardial voltages and FFR in areas of LGE presence. Genetic variants in desmosomal genes (desmoplakin and desmoglein-2) were identified in 12/25 of the cohort presenting pathogenic/likely-pathogenic variants. A definite/borderline 2010 ITFC ARVC diagnosis was reached only in 11/25 patients. <strong>Conclusion: </strong>ALVC presents with a preferential involvement of the lateral and/or postero-lateral basal LV and is associated mostly with variants in desmoplakin and<em> </em>desmoglein-2 genes. An amendment to the current ITFC is reasonable to better diagnose ALVC patients.本数据集收录了与论文《致心律失常性左心室心肌病患者的临床特征：结合遗传学与组织病理学研究结果》相关的原始实验数据。 摘要 背景：致心律失常性左心室心肌病（Arrhythmogenic Left Ventricular Cardiomyopathy, ALVC）是一种最初累及左心室（left ventricle, LV）的致心律失常性心肌病表型，目前对其特征的阐明仍不充分。2010年发布的致心律失常性右心室心肌病国际工作组诊断标准（International Task Force Criteria, ITFC）未纳入ALVC，且目前针对该表型的相关研究数据较为匮乏。 方法：本研究纳入所有经确诊的ALVC患者，并对其临床特征进行回顾性报道。ALVC的确诊标准为：心脏磁共振（cardiac magnetic resonance, CMR）检查显示左心室孤立性晚期钆增强（late gadolinium enhancement, LGE）及纤维脂肪替代（fibro-fatty replacement, FFR），且存在与致心律失常性右心室心肌病（arrhythmogenic right ventricular cardiomyopathy, ARVC）相关的遗传学变异，或左心室心内膜心肌活检（endomyocardial biopsy, EMB）结果显示存在符合2010年ITFC标准的纤维脂肪替代病变。 结果：本研究共纳入25例ALVC患者，年龄中位数为53岁（四分位间距48~59岁），男性占比60%。心电图最常见的异常表现为下侧壁及左胸前导联T波倒置。入组时患者的整体心律失常发生负荷为56%。所有患者的CMR检查均显示左心室侧壁和/或后基底部存在晚期钆增强。72%的患者接受了有创评估，其中电解剖电压标测（electroanatomical voltage mapping, EVM）及EVM引导下的EMB结果显示，存在LGE的区域心内膜电压偏低且伴纤维脂肪替代病变。队列中有12例患者检出桥粒基因（桥粒斑蛋白（desmoplakin）与桥粒芯糖蛋白-2（desmoglein-2））存在致病性或可能致病性变异。仅11例患者符合2010年ITFC标准的明确或临界ARVC诊断。 结论：ALVC的病变主要累及左心室侧壁和/或后外侧基底部，且多与桥粒斑蛋白及桥粒芯糖蛋白-2基因的变异相关。对现行的2010年ITFC标准进行修订，以更精准地诊断ALVC患者具有合理性。