Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria

Abstract

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.

Clinical trial registration: URL: http://www.clinicaltrials.gov. Unique identifier: NCT00024505.

Figure 1

The cardiac desmosome and proposed roles of the desmosome in (A) supporting structural stability through cell-cell adhesion, (B) regulating transcription of genes involved in adipogenisis and apoptosis, and maintaining proper electrical conductivity through regulation of (C) gap junctions and (D) calcium homeostasis. Abbreviations: Dsc2, desmocollin-2; Dsg2, desmoglein-2; Dsp, desmoplakin; Pkg, plakoglobin; Pkp2, plakophilin-2; PM, plasma membrane. Used with permission Awad MM, et al

Figure 2

Endomyocardial biopsy findings in a proband affected by a diffuse form of ARVC/D. All three biopsy samples are from different regions of the RV free wall. There is extensive fibro-fatty tissue replacement with myocardial atrophy that is a major criterion, i.e. residual myocytes <60% by morphometric analysis, or < 50% if estimated. (Contributed by C. Basso, Padua, Italy)

Figure 3

ECG from proband with T wave inversion in V₁ – V₄ and prolongation of the terminal activation duration ≥ 55 msecs measured from the nadir of the S wave to the end of the QRS complex in V₁. (Contributed by MGPJ Cox, Utrecht, The Netherlands)