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