Danita M. Yoerger Sanborn

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria.

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 clinicaltrials.gov Identifier: NCT00024505.

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

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.

Arrhythmogenic right ventricular cardiomyopathy/dysplasia clinical presentation and diagnostic evaluation: Results from the North American Multidisciplinary Study

BACKGROUND Prior reports on patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) focused on individuals with advanced forms of the disease. Data on the diagnostic performance of various testing modalities in newly identified individuals suspected of having ARVC/D are limited. OBJECTIVE The purpose of the Multidisciplinary Study of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia was to study the clinical characteristics and diagnostic evaluation of a large group of patients newly identified with ARVC/D. METHODS A total of 108 newly diagnosed patients with suspected ARVC/D were prospectively enrolled in the United States and Canada. The patients underwent noninvasive and invasive tests using standardized protocols that initially were interpreted by the enrolling center and adjudicated by blind analysis in six core laboratories. Patients were followed for a mean of 27 +/- 16 months (range 0.2-63 months). RESULTS The clinical profile of these newly diagnosed patients differs from the profile of reported patients with more advanced disease. There was considerable difference in the initial and final classification of the presence of ARVC/D after the diagnostic tests were evaluated by the core laboratories. Final clinical diagnosis was 73 affected, 28 borderline, and 7 unaffected. Individual tests agreed with the final diagnosis in 50% to 70% of the 73 patients with a final classification of affected. CONCLUSION The clinical profile of 108 newly diagnosed probands with suspected ARVC/D indicates that a combination of diagnostic tests is needed to evaluate the presence of right ventricular structural, functional, and electrical abnormalities. Echocardiography, right ventricular angiography, signal-averaged ECG, and Holter monitoring provide optimal clinical evaluation of patients suspected of ARVC/D.

Educational intervention to reduce outpatient inappropriate echocardiograms: a randomized control trial.

OBJECTIVES This study sought to prospectively study the impact of an appropriate use criteria (AUC)-based educational intervention on outpatient transthoracic echocardiography (TTE) ordering by physicians-in-training. BACKGROUND AUC were developed in response to concerns about inappropriate utilization. It is unknown whether an educational intervention can reduce inappropriate outpatient TTE. METHODS We conducted a randomized control trial in which physicians-in-training were randomized to an AUC-based educational intervention or a control group at an academic medical center in Boston, Massachusetts. The primary endpoints were the rates of inappropriate and appropriate TTE. RESULTS For the cardiology physicians-in-training, the proportion of inappropriate TTE was significantly lower in the intervention than in the control group (13% vs. 34%, p < 0.001). As a corollary, the proportion of appropriate TTE ordered by the intervention group was significantly higher than that of the control group (81% vs. 58%, p < 0.001). The odds of ordering an appropriate TTE in the cardiology intervention group was 2.7 (95% confidence interval [CI]: 1.5 to 5.1, p = 0.002) relative to the control group. The internal medicine physicians-in-training ordered a small number of TTE overall, and there was a trend toward significant odds of ordering an appropriate TTE in the intervention group relative to the control group (odds ratio [OR]: 8.1, 95% CI: 0.95 to 69.0, p = 0.055). Six clinical scenarios accounted for 75% of all inappropriate TTE, with the 3 most common inappropriate indications being routine surveillance (<1 year) of known cardiomyopathy without a change in clinical status, routine surveillance of known small pericardial effusion, and routine surveillance of ventricular function with known coronary artery disease and no change in clinical status. CONCLUSIONS In cardiology fellows with a high rate of ordering inappropriate TTE, an AUC-based educational and feedback intervention reduced the proportion of inappropriate outpatient TTE and increased the proportion of appropriate outpatient TTE. (Educational Intervention to Reduce Outpatient Inappropriate Transthoracic Echocardiograms; NCT01944202).

Echocardiographic Guidance of Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy

Alcohol septal ablation (ASA) has become an established treatment option for patients with refractory symptoms due to the obstructive variant of hypertrophic cardiomyopathy (HCM) (Fifer and Sigwart, Eur Heart J 32(9):1059–1064, 2011; Fifer, Circulation 116(2):207–216, 2007; Holmes et al., Catheter Cardiovasc Interv 66(3):375–389, 2005; El Masry and Breall, Curr Cardiol Rev 4(3):193–197, 2008). Trans-thoracic echocardiography is often the initial modality performed when a diagnosis of HCM is suspected and results are typically used to help determine which treatments might be appropriate to help relieve obstruction. A multidisciplinary team approach to procedure selection and guidance is an ideal management strategy for patients with obstructive HCM. Once the decision has been made to proceed with ASA, real-time intra-procedural echocardiography is the ideal imaging modality to help define the anatomy and mechanism of the obstruction and contrast echocardiography is used to guide the selection of the appropriate septal perforator into which the alcohol will be infused. Imaging during and after ASA is useful to predict procedural success and to monitor for complications.