Twist, left ventricular longitudinal and circumferential strain are early markers of cardiac involvement in Fabry disease

Abstract

Abstract Introduction Fabry disease (FD) is an X-linked progressive and multisystemic disease. Cardiac involvement is common and left ventricular hypertrophy (LVH) is the main cardiac manifestation. Purpose To determine the differences in echocardiographic parameters between FD patients without LVH and healthy controls. Methods We conducted a prospective study encompassing FD patients followed in a Reference Center of Lysosomal Storage Disorders. All patients performed a complete echocardiographic evaluation, including left ventricular strain analysis by two-dimensional speckle tracking imaging. Demographic, clinical characteristics and echocardiographic parameters were analysed. FD patients without LVH were compared with healthy controls, using Chi-square test for categorical variables and Student's T-test for continuous variables. The significance level was 0,05. Results A total of 91 FD patients were included, with a median age of 51 years-old and 62,6% of female predominance. 16,5% of patients were under enzymatic replacement therapy with agalsidase alpha and 7,7% were treated with chaperone therapy (migalastat). 58 patients (64%) did not present LVH. FD patients without LVH were younger (44,2 vs 52,9 years-old, p<0,001), had higher interventricular septum thickness (9,3 vs 8,4 mm, p=0,006) and left ventricular mass index (77,2 vs 68,4 g/m2, p=0,003) than healthy controls. Left ventricular ejection fraction was preserved in both groups (63,3% vs 65,4%; p=0,067). Global longitudinal strain (−19,6% vs −20,9%; p=0,003) and global circumferential strain (−17,9% vs −20,9%; p<0,001) were significantly lower in FD patients without LVH compared to healthy controls. Global radial strain was also lower, although without statistical significance (36,4% vs 41,4%, p=0,058). FD patients without LVH presented a lower base-to-apex circumferential strain gradient (5,7% vs 7,7%; p=0,035), but a higher base-to-apex longitudinal strain gradient (7,5% vs 4,3%; p<0,001), compared to controls. Left ventricular twist was also significantly lower in FD patients without LVH (13,8° vs 21,7°, p<0,001). Conclusion Left ventricular strain and twist analysis are useful to identify subclinical myocardial impairment in FD patients without LVH. Funding Acknowledgement Type of funding sources: None.