University of Arizona, Tucson, AZ, USA.
Eur Heart J. 2010 Apr;31(7):806-14. doi: 10.1093/eurheartj/ehq025. Epub 2010 Feb 19.
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.
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.
The present modifications of the Task Force Criteria represent a working framework to improve the diagnosis and management of this condition. Clinical Trial Registration clinicaltrials.gov Identifier: NCT00024505.
1994 年，一个国际工作组提出了心律失常性右室心肌病/发育不良（ARVC/D）的临床诊断标准，这有助于识别和解释 ARVC/D 经常出现的非特异性临床特征。这使得通过排除表型和提供一个可以基于临床研究和遗传研究的标准，对索引病例进行明确的临床诊断成为可能。疾病的结构、组织学、心电图、心律失常和家族特征被纳入标准，根据与 ARVC/D 相关性的特异性分为主要和次要类别。当时，ARVC/D 的临床经验主要集中在有症状的索引病例和心脏性猝死的患者身上，即疾病谱的明显或严重端。因此，1994 年的标准特异性很高，但对早期和家族性疾病的敏感性较低。
诊断标准的修订提供了关于新兴诊断方法和 ARVC/D 遗传学进展的指导。标准已经过修改，纳入了新的知识和技术，以提高诊断的敏感性，但重要的是要保持诊断的特异性。将疾病的结构、组织学、心电图、心律失常和遗传特征分类为主要和次要标准的方法得到了保留。在工作组标准的这一修改中，提出了定量标准，并根据与正常受试者数据的比较来定义异常。
工作组标准的这一修改代表了一个改进该疾病诊断和管理的工作框架。临床试验注册临床trials.gov 标识符：NCT00024505。
