Echocardiography in Fabry disease: diagnostic value of endocardial border binary appearance

It has been reported that the endocardium in Fabry disease has a binary appearance on transthoracic echocardiography. It has been suggested that this sign could be used with good accuracy to differentiate Fabry disease from hypertrophic cardiomyopathy and even as a first filter to screen for suspected Fabry disease.

Therefore, we performed a blinded echocardiography in a non-selected population of patients with Fabry disease and matched controls. We included 23 echocardiographic studies of Fabry patients.

Two of the Fabry patients had binary appearance of the endocardium. One of them had left ventricular hypertrophy (LVH) and the other had a normal left ventricular mass. Binary appearance of the endocardium was detected in four of the controls, and one of them had LVH. Subgroup analysis of patients who had LVH indicated a sensitivity of 12.5% and a specificity of 66.7% for binary appearance of the endocardium to detect Fabry disease as the underlying cause of LVH. Overall, binary appearance of the endocardium had a sensitivity and a specificity of 15.4 and 73.3%, respectively, to distinguish patients with Fabry disease from controls in our population.

Binary appearance of the endocardium is not feasible for screening Fabry disease by echocardiography.