Echocardiographic features of Fabry cardiomyopathy—Comparison with hypertrophy‐matched sarcomeric hypertrophic cardiomyopathy

Abstract Background The concept of “red flags” has been particularly useful in the etiologic diagnosis of cardiomyopathies such as Fabry disease, as early detection is often essential for treatment response and outcomes. The present study sought to describe the echocardiographic features that may differentiate Fabry cardiomyopathy from sarcomeric hypertrophic cardiomyopathy (HCM). Methods Forty patients with left ventricular (LV) hypertrophy were prospectively included and divided into two groups: the Fabry group (20) and the sarcomeric HCM group (20). The two groups were matched for LV hypertrophy (similar maximum wall thickness and indexed LV mass) and age. All patients underwent full echocardiographic evaluation including ventricular strain analysis. Results The Fabry group had significantly lower LV ejection fraction (63 ± 7 vs 72 ± 7%, P = .001) and higher LV end‐systolic diameter (28 ± 7 vs 22 ± 5 mm, P = .004). LV hypertrophy in Fabry patients was more often concentric, with a significantly lower interventricular septum/posterior wall ratio (1.22 ± 0.63 vs 1.55 ± 0.66, P = .001). Fabry patients had more reduced regional longitudinal strain in the inferolateral part of the LV (−9 ± 5 vs –16 ± 7%), and RV free wall longitudinal strain was also worse in Fabry patients (−23 ± 6 vs –28 ± 5%, P = .027). Conclusion These parameters are promising echocardiographic features to identify patients with Fabry cardiomyopathy and may help for the detection and subsequent management of these patients.