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Abstract：
This study aimed to determine the prevalence and clinical features of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) caused by pathogenic mutations in the Phospholamban (PLN) gene. The study included 170 patients who had a confirmed diagnosis of ARVC and underwent PLN genetic screening using next-generation sequencing. The findings of this study provide valuable insights into the association between PLN mutations and ARVC, which can aid in the development of more effective diagnostic and treatment strategies for ARVC patients. Out of the patients evaluated, six had a rare pathogenic mutation in PLN with the same p.R14del variant. Family screening revealed that heterozygous carriers of p.R14del exhibited a definite ARVC phenotype. In clinical studies, individuals with the p.R14del mutation experienced a similar rate of malignant arrhythmia events as those with classic desmosome mutations. After adjusting for covariates, individuals with PLN mutations had a two point one seven times greater likelihood of experiencing transplant-related risks compared to those who did not possess PLN mutations (95% CI 1.08-6.82, p = 0.035). The accumulation of left ventricular fat and fibers is a pathological marker for ARVC patients with p.R14del mutations. In a cohort of 170 Chinese ARVC patients, three point five percent of probands had the PLN pathogenic variant (p.R14del) and all were female. Our data shows that PLN-related ARVC patients are at high risk for ventricular arrhythmias and heart failure, which requires clinical differentiation from classic ARVC. Furthermore, carrying the p.R14del mutation can be an independent prognostic risk factor in ARVC patients.
UNASSIGNED: The online version contains supplementary material available at 10.1007/s43657-023-00126-w.
UNASSIGNED: The online version contains supplementary material available at 10.1007/s43657-023-00126-w.
摘要：
本研究旨在确定由磷化氢（PLN）基因致病突变引起的致心律失常性右心室心肌病（ARVC）的患病率和临床特征。该研究包括170名确诊为ARVC并使用下一代测序进行PLN基因筛查的患者。这项研究的结果为PLN突变与ARVC之间的关联提供了有价值的见解，这有助于为ARVC患者开发更有效的诊断和治疗策略。在被评估的病人中，六个在PLN中具有相同的p.R14del变体的罕见致病突变。家族筛选显示p.R14del的杂合携带者表现出明确的ARVC表型。在临床研究中,具有p.R14del突变的个体发生恶性心律失常事件的比率与具有经典桥粒突变的个体相似.在调整协变量后，与没有PLN突变的个体相比,有PLN突变的个体发生移植相关风险的可能性高2分7倍(95%CI1.08~6.82,p=0.035).左心室脂肪和纤维的积累是具有p.R14del突变的ARVC患者的病理标记。在170名中国ARVC患者的队列中，百分之三点五的先证者具有PLN致病性变异体（p。R14del）和所有人都是女性。我们的数据显示，与PLN相关的ARVC患者存在室性心律失常和心力衰竭的高风险，这需要与经典的ARVC进行临床鉴别。此外，携带p.R14del突变可能是ARVC患者的独立预后危险因素。
■在线版本包含补充材料，可在10.1007/s43657-023-00126-w获得。
■在线版本包含补充材料，可在10.1007/s43657-023-00126-w获得。
