Binary endocardial appearance for Fabry disease diagnosis: a systematic review and meta-analysis

Abstract

Abstract Objective This study aimed to determine the performance of the endocardial binary appearance (binary sign [BS]) on echocardiography for Fabry-Anderson disease (FD) diagnosis. Methods 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. Results 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. Conclusion 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. Funding Acknowledgement Type of funding sources: None.