致心律失常性心肌病诊断标准(2010年)在不同阜外分型患者中的诊断效能  

The Diagnostic Efficiency of 2010 Task Force Criteria in Arrhythmogenic Cardiomyopathy With Different Fuwai Classifications

作　　者：任杰[1] 陈亮 胡盛寿[1] REN Jie;CHEN Liang;HU Shengshou(Department of Cardiac Surgery,National Center for Cardiovascular Diseases and Fuwai Hospital,CAMS and PUMC,Beijing(100037),China)

机构地区：[1]中国医学科学院北京协和医学院国家心血管病中心阜外医院心外科,北京市100037

出　　处：《中国循环杂志》2022年第3期234-238,共5页Chinese Circulation Journal

基　　金：国家自然科学基金(82100377);国家重点研发计划(2016YFC1300900);北京市科技新星计划(Z211100002121046)。

摘　　要：目的:探究致心律失常性心肌病(ACM)诊断标准(2010年)在不同阜外分型患者中的诊断效能。方法:纳入60例在中国医学科学院阜外医院进行心脏移植的ACM患者,运用一致性聚类算法对上述60例移植心脏的病理特征进行无监督聚类分析,将患者归类为阜外Ⅰ、Ⅱ、Ⅲ、Ⅳ型4种亚型。比较不同阜外分型ACM患者中的ACM诊断标准整体得分以及各诊断项目(心脏结构及功能、复极化、去极化、心律失常、家族史)得分情况,评估各诊断项目的诊断效能。结果:ACM诊断标准(2010年)对于不同阜外分型ACM患者的诊断效能具有明显异质性,与阜外Ⅰ、Ⅱ型比,阜外Ⅲ、Ⅳ型ACM患者的诊断效能均较低(P均<0.01)。不同阜外分型ACM患者在复极化、去极化以及心律失常这三个诊断项目中没有明显权重分布(P均>0.05)。阜外Ⅰ、Ⅱ型ACM患者在心脏结构及功能,以及家族史诊断项目中得分频率明显高于阜外Ⅲ、Ⅳ型患者(P均<0.05)。是否携带桥粒基因突变可有效将阜外Ⅰ型和其他分型ACM患者进行区分,特异度91.9%,灵敏度69.6%,阳性预测率84.2%,阴性预测率82.9%(P<0.0001)。结论:ACM诊断标准(2010年)对于阜外Ⅲ、Ⅳ型ACM患者的诊断效能较低。桥粒基因突变筛查有助于区分鉴别诊断不同阜外亚型ACM患者。Objectives: To investigate the diagnostic efficiency of 2010 Task Force Criteria(TFC) in arrhythmogenic cardiomyopathy(ACM) with different Fuwai classifications.Methods: In total, 60 end-stage ACM patients admitted to the Fuwai Hospital for heart transplantations from January 2005 to December 2018 were included in this study. Consensus clustering method was applied to analyze the comprehensive pathological features of included patients and ACM patients were classified into four subtypes(Fuwai classifications, FW Ⅰ/Ⅱ/Ⅲ/Ⅳ). For each item of the 2010 TFC, major criteria counts 2 points and minor criteria counts 1 point. The diagnostic efficacy of 2010 TFC was compared among the patients with different Fuwai classifications.Results: The diagnostic efficiency of 2010 TFC held an apparent inter-classifications heterogeneity among patients with various Fuwai classifications. The diagnostic efficiency of 2010 TFC was lower in ACM patients with FW III/IV classifications than patients with FW I/II classifications(P<0.01). There is no significant difference among patients with various Fuwai classifications in the distribution of repolarization/depolarization abnormalities, and arrhythmias(P>0.05). On the item of cardiac dysfunction and structural alterations or family history, the FW Ⅰ/Ⅱ patients scored significantly higher than the FW Ⅲ/Ⅳ patients(P<0.05). Presence of desmosomal genes mutations could effectively discriminate FW I from other FW classifications in ACM patients(sensitivity of 91.9%, specificity of 69.6%, positive predictive value of 84.2%, negative predictive value of 82.9%, P<0.0001).Conclusions: The diagnostic efficiency of 2010 TFC exhibit a lower diagnostic efficacy in FW Ⅲ/Ⅳ ACM patients.Desmosomal gene mutation screening is helpful for the differential diagnosis of ACM patients with different Fuwai subtypes.

关 键 词：致心律失常性心肌病 阜外分型 诊断效能 鉴别诊断 

分 类 号：R54[医药卫生—心血管疾病]