LAUSR

This study aimed to determine the performance of the endocardial binary appearance (binary sign [BS]) on echocardiography for Fabry-Anderson disease (FD) diagnosis. A diagnostic systematic review was performed, which included studies with >20 patients selected, with enough reported data to compute the 2 × 2 tables, and with a BS evaluation against a genetic test. Evidence was searched up to October 4, 2020, in the following databases: PubMed, Scopus, EMBASE, and Web of Science. The risk of bias was evaluated using the Quality Assessment of Diagnostic Accuracy Studies 2 tool and certain evidence using the Grading of Recommendations Assessment, Development, and Evaluation approach. Four studies were included in the systematic review. All studies were cross-sectional that included 524 patients that compared the BS vs. the alpha-galactosidase-A and/or genetic test, alpha-galactosidase-A and globotriaosylceramide isoform, and genetic test alone. The BS was found to have a sensitivity of 41% (confidence interval [CI] 95% = 17–71) and specificity of 91% (CI 95% = 60–99) and area under the curve of 0.71 (CI 95% = 0.64–0.78) for diagnostic of FD, with a certain of evidence low. The BS has a good performance in confirming the diagnosis of FD, but not for screening. However, the evidence had low certainty, thus future studies could modify these results. Type of funding sources: None.