Misdiagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
BACKGROUND
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.


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.


CONCLUSIONS
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.
Bomma
Chandra
C
Department of Cardiology Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Rutberg
Julie
J
Tandri
Harikrishna
H
Nasir
Khurram
K
Roguin
Ariel
A
Tichnell
Crystal
C
Rodriguez
Rene
R
James
Cynthia
C
Kasper
Edward
E
Spevak
Philip
P
Bluemke
David A
DA
Calkins
Hugh
H
D000293:Adolescent; D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000175:diagnosis*; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D004452:Echocardiography; D015716:Electrocardiography, Ambulatory; D005080:Exercise Test; D005260:Female; D006329:Heart Conduction System / Q000000981:diagnostic imaging / Q000473:pathology; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008396:Maryland; D008875:Middle Aged; D014057:Tomography, X-Ray Computed; D018497:Ventricular Dysfunction, Right / Q000175:diagnosis