The value of electrocardiogram and echocardiography to distinguish Fabry disease from sarcomeric hypertrophic cardiomyopathy

Background Screening for Fabry disease (FD) remains suboptimal in non-specialized centers. Aims We aimed to evaluate the diagnostic value of electrocardiographic (ECG) scores of left ventricular hypertrophy (LVH) and the diagnostic value of a combined ECG and echocardiographic model for FD. Methods We retrospectively reviewed the ECG and echocardiogram of 61 patients (age: 55.6 ± 11.5 years, 57% men) with FD and LVH, and compared them to 59 patients (age: 44.8 ± 18.3 years, 66% men) with sarcomeric hypertrophic cardiomyopathy (HCM). Six ECG criteria for LVH were specifically analyzed: – Sokolow-Lyon index, – Cornell voltage index 3) Gubner index, – Romhilt-Estes score, – Sokolow-Lyon voltage × QRS duration product, – Cornell voltage × QRS duration product. Results Right Bundle Branch Block (RBBB) was more frequent in FD (54% vs. 22%, P = 0.001). QRS duration, Gubner score, and Sokolov-Lyon product were significantly higher in FD. Maximal thickness wall (MTW) was higher in sarcomeric HCM group (21.9 ± 5.1 mm vs. 15.5 ± 2.9 mm in Fabry, P  Conclusion Our model combining easy-to-assess ECG and echocardiographic parameters may be helpful to improve screening and reduce diagnosis delay of FD.