Elsevier

Heart Rhythm

Volume 6, Issue 7, July 2009, Pages 984-992
Heart Rhythm

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

https://doi.org/10.1016/j.hrthm.2009.03.013Get rights and content

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.

Section snippets

Organizational structure

The Multidisciplinary Study of Right Ventricular Cardiomyopathy/Dysplasia established the North American ARVC/D Registry, which consisted of 18 enrolling centers in the United States and Canada (see Appendix), a clinical center at the University of Arizona, a data coordinating center at the University of Rochester, a genetic center at Baylor College of Medicine, six core laboratories in the United States and Europe, and a National Institutes of Health (NIH)-appointed Data and Safety Monitoring

Demographic and clinical characteristics (Table 1)

The database was evaluated as of October 4, 2007, at which time final classification was available for 112 probands. Of these patients, four diagnosed as having ARVC/D subsequently were documented to have cardiac sarcoidosis by pathologic examination of myocardial or cervical lymph node biopsy, even though they fulfilled task force criteria. Therefore, for descriptive purposes of the ARVC/D population, these four patients were excluded, and analysis was performed on the remaining 108 probands.

Discussion

This is the first study of a large number of newly diagnosed patients suspected of having ARVC/D, who were studied systematically with a variety of standardized diagnostic tests. The clinical characteristics of this large group of newly diagnosed probands provide a unique profile of these patients. In addition, this design allows, for the first time, a comparison of the interpretation of the three imaging tests by the referring center with blinded interpretation of the tests by the core

Conclusion

The clinical profile of 108 newly diagnosed patients with suspected ARVC/D indicates that a combination of diagnostic imaging tests is needed to evaluate the presence of RV structural, functional, and electrical abnormalities. Echocardiography, RV angiography, SAECG, and Holter monitoring provide optimal clinical evaluation of patients suspected of having ARVC/D. In the early stages of ARVC/D, overall RV function may be normal, with local or regional wall-motion abnormalities that are difficult

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    This study was supported by Grant NIH UO1-HL65594.

    Author affiliations are listed in the Appendix.

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