Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

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.

Comparison of radionuclide angiographic synchrony analysis to echocardiography and magnetic resonance imaging for the diagnosis of arrhythmogenic right ventricular cardiomyopathy

“…5 Our findings reinforce this notion and serve to emphasize that ERNA may be superior to ECHO for ARVC diagnosis. Of the 10 patients with ARVC classified as negative based on ECHO features delineated in the modified Task Force criteria, none had a regional RV wall motion abnormality and only 3 had mild RV dilation on the basis of ECHO findings.…”

“…The parameters outlined in the modified Task Force criteria were the reference standards for the diagnosis of ARVC using ECHO and CMR (major or minor criterion). 5 Classification of an ERNA measurement as positive required that both S and E be within abnormal limits. The accuracy of both S and E were compared with that of ECHO and CMR by calculating the χ 2 statistic using the McNemar test.…”

“…3 There remains no single definitive diagnostic test for ARVC, and diagnosis currently relies on a composite of clinical, imaging, pathologic, and electrocardiographic (ECG) features outlined in the modified Task Force criteria. 4,5 Although the modified Task Force criteria are highly specific, they have modest sensitivity, especially in mild and early stages of the disease. 5,6 Current diagnostic imaging modalities incorporated into the modified Task Force criteria include echocardiography (ECHO), cardiovascular magnetic resonance (CMR), and angiography.…”

“…4,5 Although the modified Task Force criteria are highly specific, they have modest sensitivity, especially in mild and early stages of the disease. 5,6 Current diagnostic imaging modalities incorporated into the modified Task Force criteria include echocardiography (ECHO), cardiovascular magnetic resonance (CMR), and angiography. Although clearly valuable diagnostic tools, each of them has important limitations and may yield inconclusive findings.…”

Arrhythmogenic Phenotype in Dilated Cardiomyopathy: Natural History and Predictors of Life‐Threatening Arrhythmias

“…In DCM, a family history of SCD/SVT/VF is associated with an increased risk of life‐threatening arrhythmias, a concept well established in other forms of arrhythmogenic cardiomyopathies such as ARVC33, 34 and hypertrophic cardiomyopathy 32, 35. Even though none of our AR‐DCM patients fulfilled new task force criteria of ARVC24 with LV involvement, the potential overlap with desmosomal diseases (ARVC, arrhythmogenic cardiomyopathy, left‐dominant arrhythmogenic cardiomyopathy), considered to be distinct disorders,10 warrants further investigations 36…”