Echocardiographic evaluation has a low sensitivity for detection of patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) using the guidelines criteria of 2010  
American College of Cardiology 2013  
R Borgquist; T Gilljam; AG Holst; KH Haugaa; T Edvardsen; O Eschen; J Hansen; H Bundgaard; JH Svendsen; PG Platonov  
Background: The diagnostic criteria for ARVC were modified in 2010 and minor and major imaging criteria can be obtained by MRI or echocardiography. Many centres do not have readily access to cardiac MRI, and it is therefore important that echocardiography-based criteria are sensitive enough to identify and characterise individuals with ARVC. Echocardiographic criteria involve regional wall motion abnormalities and RV dilatation or reduced function. Regional abnormalities are often subtle and overlooked, but quantitative measures of RV dimensions are presumably more robust. Methods: From the Nordic ARVC Registry (including patients from Sweden, Denmark and Norway), 85 patients with definite ARVC were included in the study (median age 47 years [16-80], 42% female). Both echocardiography and MRI were done at baseline. The initial standard echocardiographic investigation was evaluated with regard to fulfilment of the 2010 diagnostic ARVC criteria regarding quantitative measurements. For comparison the initial MRI investigation was used. Results: Sixty-four patients fulfilled task force imaging criteria for ARVC by MRI (major {n = 62} or minor {n=2}). Patients with positive MRI findings had significantly larger RV dimensions and lower fractional area change on echocardiography than MRI negative patients; PLAX RVOT 18±3 vs. 15±2 mm/m2, PSAX RVOT 18±5 vs. 15±2 mm/m2 and FAC 34±10 vs. 43±6% (p<0.05 for all). On echocardiography, 37% of the patients fulfilled minor criteria for RV dilatation, 37% fulfilled major criteria for RV dilatation, but 26% of the patients had normal RV dimensions and no regional wall motion abnormalities on echo. No patients with negative MRI had a positive echo. Conclusions: Evaluation of structural changes of the right ventricle using echocardiography is difficult, and even quantitative measures of RV dilatation are less sensitive than MRI. A significant number of patients with imaging-positive ARVC by MRI showed normal echocardiographic study at baseline. These findings indicate that MRI needs to be performed when there is a high clinical suspicion of ARVC - even if the echocardiogram is considered normal.  
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