Screening for Fabry disease (FD) remains suboptimal in non-specialized centers.

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.

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.

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±5.1mm vs. 15.5±2.9mm in Fabry, P<0.001). Indexed Valsalva sinus diameter was higher in patients with FD. After multivariable analysis RBBB, Sokolov-Lyon product, MTW and aortic diameter were independently associated with FD. A model including these 4 parameters yielded an area under the ROC curve of 0.918 [95% Confident Interval: 0.868–0.968] for FD.

Our model combining easy-to-assess ECG and echocardiographic parameters may be helpful to improve screening and reduce diagnosis delay of FD.