Misdiagnosis of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Authors

  • CHANDRA BOMMA M.D.,

    1. Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; and †Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • JULIE RUTBERG M.S.,

    1. Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; and †Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • HARIKRISHNA TANDRI M.R.C.P.,

    1. Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; and †Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • KHURRAM NASIR M.D., M.P.H.,

    1. Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; and †Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • ARIEL ROGUIN M.D., Ph.D.,

    1. Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; and †Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • CRYSTAL TICHNELL M.G.C.,

    1. Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; and †Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • RENE RODRIGUEZ M.D.,

    1. Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; and †Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • CYNTHIA JAMES Ph.D.,

    1. Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; and †Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • EDWARD KASPER M.D.,

    1. Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; and †Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • PHILIP SPEVAK M.D.,

    1. Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; and †Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • DAVID A. BLUEMKE M.D., Ph.D.,

    1. Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; and †Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • HUGH CALKINS M.D.

    1. Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; and †Department of Radiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
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  • The Johns Hopkins ARVD/C program is funded by a private grant from the Bogle Foundation. This study also is supported by National Institutes of Health Research Grant 1 UO1 HL65594-01A1.

  • Manuscript received 20 August 2003; Accepted for publication 13 November 2003.

Address for correspondence: Hugh Calkins, M.D., Carnegie 592, The Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore MD 21287. Fax: 410-614-1345; E-mail: hcalkins@jhmi.edu

Abstract

Introduction: Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) has major implications for the management of patients and their first-degree relatives. Diagnosis is based on a set of criteria proposed by the International Task Force for Cardiomyopathies. We report our experience in providing a re-evaluation for patients who previously have been diagnosed with ARVD/C.

Methods and Results: We studied 89 patients who requested a re-evaluation for diagnosis of ARVD/C at our center. Each of these patients had been diagnosed with ARVD/C at their initial evaluation. Each patient was re-evaluated with clinical history, physical examination, and noninvasive testing at our center. Invasive testing, which included electrophysiologic testing, right ventricular angiography, and endomyocardial biopsy, was performed when clinically indicated. Sixty (92%) of the 65 patients who had undergone magnetic resonance imaging (MRI) at an outside institution were reported to have an abnormal MRI consistent with ARVD/C. Among these patients, the only abnormality identified was the qualitative finding of intramyocardial fat/wall thinning in 46 patients. On re-evaluation, these qualitative findings were not confirmed. None of these 46 patients ultimately were diagnosed with ARVD/C. Among the entire patient group, only 24 (27%) of the 89 patients met the Task Force criteria for ARVD/C.

Conclusion: This study demonstrates that the high frequency of “misdiagnosis” of ARVD/C is due to over-reliance on the presence of intramyocardial fat/wall thinning on MRI, incomplete diagnostic testing, and lack of awareness of the Task Force criteria. Diagnosis of ARVD/C cannot rely solely upon qualitative features on MRI. (J Cardiovasc Electrophysiol, Vol. 15, pp. 300-306, March 2004)

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