Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: Proposed Modification of the Task Force Criteria

OBJECTIVES: 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:  Revision of the diagnostic criteria provides guidance on the role of emerging diagnostic modalities and advances in the genetics of ARVC/D.

RESULTS: 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. Johnny Townsend Womens Jersey

PMID: 20172912

Posted in * Journal Club Selections, Echo, Magnetic Resonance Imaging and tagged , , , , , .

2 Comments

  1. This new criteria includes specific parameters for 2D echo and MRI for evaluation of the Global or regional dysfunction and structural alterations section of the criteria.

    Additionally, it also revises the criterion on Tissue characterization of wall. This remains a criterion based purely in tissue examination by endomyocardial biopsy. The use of MRI or other modalities as surrogates for the detection of RV fibrofatty replacement should NOT be used as part of the diagnosis-making algorithm of ARVD.

    See:
    Focal macroscopic fat deposition within the right ventricular wall in asymptomatic patients undergoing screening EBCT coronary calcium scoring examinations.
    Kirsch J, Williamson EE, Glockner JF.
    Int J Cardiovasc Imaging. 2008 Feb;24(2):223-7.
    PMID:

  2. An international task force proposed initial criteria for the clinical diagnosis of ARVC/D based on structural, histological, ECG, arrhythmic, and familial features. At that time, clinical experience with ARVC/D was primarily with symptomatic index cases and sudden cardiac death patients. This led to 1994 criteria that were very specific, but were insensitive to early disease manifestations. This revises set of diagnostic criteria were motivated by the interest in improving diagnostic sensitivity through incorporation of new knowledge and technology, while retaining good specificity.

    What features of ARVC/D were analyzed?

    As in the prior version of recommendations, structural, histological, ECG, arrhythmic, and genetic features with minor and major criteria. This discussion will focus on past and updated task force MRI imaging criteria for ARVC/D diagnosis.

    What data was the modified task criteria based on?

    108 established cases (probands) of ARVC/D, age greater than 12 yrs enrolled in NIH supported Multidisciplinary Study of Right Ventricular Dysplasia. These patients were compared with normal subjects from online only Data Supplement. Analysis of each test (MRI, echocardiography data were excluded if that test was critical in establishing the diagnosis of ARVC/D. This resulted in 44 proband MRI’s and 69 echocardiograms, compared with 462 and 450 normal cases respectively.

    How were major and minor criteria established?

    Major and minor criteria for MRI were made independently for each sex, with consideration of both indexed RVEDV and RVEF. A major criterion was reached if the patient had either RV size OR function abnormality in conjunction with an RV wall motion abnormality. The RVEDV OR RVEF sensitivity and specificity for males >110 mL/m2, females >100 mL/m2 or RVEF <40% (when combined with wall motion abnormality) was reported as 68-76% sensitivity/90-98 specificity. Minor criteria included RVEF 100 mL/m2 males or >90 mL/m2 females increased sensitivity to 79-89%, and specificity was 85-97%.

    What changes were made to the original task force MRI criteria?

    Original criteria were qualitative rather than quantitative, and required LV to be spared or minimally affected. Updated criteria are qualitative, as above, and also allow for LV to be affected while still maintaining an ARVC/D diagnosis. Also, localized RV aneurysms qualified as a major criterion previously, while regional wall motion abnormalities (including aneurysms) are required to occur in conjunction with RV size or global functional abnormalities on updated criteria. Finally, hypokinesia is no longer a criterion on the updated task force recommendations.

    Are there any shortcomings or lingering questions based on the task force approach/analysis?

    The quoted sensitivity and specificity values represent the 44 probands tested against 462 normal cases. Therefore a relatively small number of established ARVC/D cases were available for analysis, surely in part due to the relative paucity of cases in general (incidence 1:1 – 5k pts). Also, the controls were “normal” patients, and this may not reflect the cases seen in a clinical practice. If these task force criteria were applied to a patient group with heart failure or long standing pulmonary hypertension who also were suspected to have ARVC/D, specificity values would likely drop considerably. Also, no young children (<12 yrs) or patients with a range of ethnic backgrounds were included, which limits generalization of these results to some degree.

    What about fibrofatty replacement of RV? Isn’t that part of the criteria for diagnosis?

    Histologically this is a criterion, residual myocytes should be <60% by biopsy, with fibrous replacement of the RV free wall. Fatty replacement is not a requisite. MRI tissue characterization demonstrating fat or scar in the right ventricle was not analyzed, due to the general consensus/understanding that these are nonspecific findings. So while these are not part of the task force recommended criteria, a systematic assessment of the use of tissue characterization by MRI was not performed.

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