Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy

Aims To perform a comparative analysis of right ventricle (RV) myocardial mechanics, assessed by 2D speckle-tracking echocardiography (2D-STE), between patients with Fabry disease and patients with sarcomeric disease. Methods and results Patients with Fabry cardiomyopathy (FC) (n = 28) were compared with patients with sarcomeric hypertrophic cardiomyopathy (HCM), matched for degree of left ventricle hypertrophy (LVH) and demographic characteristics (n = 112). In addition, patients with Fabry disease and no LVH [phenotype-negative carriers of pathogenic alpha-galactosidase gene mutations (GLA LVH-)] (n = 28) were compared with age and sex-matched carriers of sarcomeric gene mutations without LVH [Phenotype-negative carriers of pathogenic sarcomeric gene mutations (Sarc LVH-)] (n = 56). Standard echocardiography and 2D-STE were performed in all participants. Despite a subtle impairment of RV global longitudinal strain (RV-GLS) was common in both groups, patients with FC showed a more prominent reduction of RV free wall longitudinal strain (RV-FWS) and lower values of difference between RV-FWS and RV-GLS (Delta RV strain), in comparison to individuals with HCM (P <0.001 and P = 0.002, respectively). RV-FWS and Delta RV strain demonstrated an independent and additive value in discriminating FC from HCM, over the presence of symmetric LVH, systolic anterior motion of the mitral valve and RV hypertrophy. Similar results were found in GLA LVH- patients: they had worse RV-FWS and lower values of Delta RV strain as compared to Sarc LVH- patients (both P <0.001). Conclusion Patients with FC show a specific pattern of RV myocardial mechanics, characterized by a larger impairment of RV-FWS and lower Delta RV strain in comparison to patients with HCM, which may be helpful in the differential diagnosis between these two diseases. [GRAPHICS] .

Automated summary

Using 2D speckle-tracking echocardiography (2D-STE), this study compared the right ventricular myocardial mechanics between patients with Fabry disease and patients with sarcomeric disease. It found that patients with Fabry disease showed a more prominent reduction in RV free wall longitudinal strain (RV-FWS) and lower values of Delta RV strain compared to patients with sarcomeric hypertrophic cardiomyopathy (HCM), which can be helpful in distinguishing between these two diseases.