Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia
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DOI：
10.1093/eurheartj/ehq025
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发表时间：
2010-04-01
影响因子：
39.3
通讯作者：
Zareba, Wojciech
中科院分区：
文献类型：
--
作者：
Marcus, Frank I.;McKenna, William J.;Zareba, Wojciech
背景1994年，一个国际工作组提出了致心律失常性右室心肌病/发育不良(ARVC/D)的临床诊断标准，以便于识别和解释ARVC/D的非特异性临床特征，这使得通过排除表型来对指标病例进行确证性临床诊断，并为临床研究和遗传学研究提供了一个标准。根据ARVC/D与ARVC/D相关性的特殊性，将疾病的结构、组织学、心电图、心律失常和家族性特征纳入标准，并将其细分为主要和次要类别。当时，ARVC/D的临床经验以症状指标病例和心脏性猝死患者为主，后者是疾病谱的明显或严重端。方法和结果修订后的诊断标准对ARVC/D的新诊断模式和遗传学进展提供了指导。修订后的标准纳入了新的知识和技术，以提高诊断的敏感性，但保持诊断的特异性是重要的要求。保持了将疾病的结构、组织学、心电图、心律失常和遗传特征作为主要和次要标准的方法。在此次修订中，特别工作组标准提出了量化标准，并在与正常受试者数据比较的基础上定义了异常情况。结论目前特别工作组标准的修订代表了一个工作框架，以改善对这种疾病的诊断和处理。
Background In 1994, an International Task Force proposed criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) that facilitated recognition and interpretation of the frequently nonspecific clinical features of ARVC/D. This enabled confirmatory clinical diagnosis in index cases through exclusion of phenocopies and provided a standard on which clinical research and genetic studies could be based. Structural, histological, electrocardiographic, arrhythmic, and familial features of the disease were incorporated into the criteria, subdivided into major and minor categories according to the specificity of their association with ARVC/D. At that time, clinical experience with ARVC/D was dominated by symptomatic index cases and sudden cardiac death victims the overt or severe end of the disease spectrum. Consequently, the 1994 criteria were highly specific but lacked sensitivity for early and familial disease.Methods and Results Revision of the diagnostic criteria provides guidance on the role of emerging diagnostic modalities and advances in the genetics of ARVC/D. The criteria have been modified to incorporate new knowledge and technology to improve diagnostic sensitivity, but with the important requisite of maintaining diagnostic specificity. The approach of classifying structural, histological, electrocardiographic, arrhythmic, and genetic features of the disease as major and minor criteria has been maintained. In this modification of the Task Force criteria, quantitative criteria are proposed and abnormalities are defined on the basis of comparison with normal subject data.Conclusions The present modifications of the Task Force Criteria represent a working framework to improve the diagnosis and management of this condition.