The value of electrocardiography and echocardiography in distinguishing Fabry disease from sarcomeric hypertrophic cardiomyopathy

Background. - Screening for Fabry disease is sub-optimal in non-specialised centres. Aim. - To assess the diagnostic value of electrocardiographic scores of left ventricular hyper-trophy and a combined electrocardiographic and echocardiographic model in Fabry disease. Methods. - We retrospectively reviewed the electrocardiograms and echocardiograms of 61 patients (mean age 55.6 +/- 11.5 years; 57% men) with Fabry disease and left ventricular hyper-trophy, and compared them with those from 59 patients (mean age 44.8 +/- 18.3 years; 66% men) with sarcomeric hypertrophic cardiomyopathy. Six electrocardiography criteria for left ventricular hypertrophy were specifically analysed: Sokolow-Lyon voltage index; Cornell voltage index; Gubner index; Romhilt-Estes score; Sokolow-Lyon product (voltage index x QRS duration); and Cornell product (voltage index x QRS duration). Results. - Right bundle branch block was more frequent in patients with Fabry disease (54% vs. 22%; P = 0.001). QRS duration, Gubner score and Sokolow-Lyon product were significantly higher in patients with Fabry disease. Maximal wall thickness was higher in patients with sarcomeric hypertrophic cardiomyopathy (21.9 +/- 5.1 vs. 15.5 +/- 2.9 mm; P < 0.001). Indexed sinus of Valsalva diameter was larger in patients with Fabry disease. After multivariable analysis, right bundle branch block, Sokolow-Lyon product, maximal wall thickness and aortic diameter were independently associated with Fabry disease. A model including these four variables yielded an area under the receiver operating characteristic curve of 0.918 (95% confidence interval 0.868-0.968) for Fabry disease. Conclusion. - Our model combining easy-to-assess electrocardiographic and echocardiographic variables may be helpful in improving screening and reducing diagnosis delay in Fabry disease. (C) 2020 Elsevier Masson SAS. All rights reserved.