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 hypertrophy 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 hypertrophy, 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×QRS duration); and Cornell product (voltage index×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±2.9mm; 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.