Left ventricular hypertrophy secondary to Fabry disease: mechanical dispersion and arrhythmic burden

Abstract

Abstract Introduction Fabry disease (FD) is an X-linked progressive and multisystemic disease, that could lead to left ventricular hypertrophy (LVH). Mechanical dispersion (MD) has been associated to risk of ventricular dysrhythmias and sudden death in several cardiomyopathies. Purpose To evaluate MD and arrhythmic burden in FD patients with and without LVH. 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 (LV) strain analysis by two-dimensional speckle tracking imaging. Clinical characteristics, echocardiographic parameters and 24h-holters results were analysed. FD patients were divided in two groups according to the presence or absence of LVH. Both groups were compared by 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 62,6% of female predominance and 36,3% of patients with LVH. Patients with LVH were older (63,6 vs 44,2 years-old; p<0,001), were predominantly male (60,6% vs 24,1%; p=0,001), had a larger prevalence of arterial hypertension (63,6% vs 10,3%; p<0,001), coronary heart disease and stroke (both 9,1% vs 0%; p=0,02). In FD patients with LVH, mean interventricular septum thickness was 16,4 mm, mean LV mass index was 157,7 g/m2, mean left atrial volume index was 34,4 ml/m2 and mean E/e' was 12,6, with 63,6% of these patients having diastolic dysfunction. Global longitudinal strain (GLS) was lower in patients with LVH (−15,6% vs −19,6%; p<0,001), with a higher base-to-apex longitudinal strain gradient (9,3% vs 6,5%; p=0,013). Global radial and circumferential strains were not statistically different between both groups. Interestingly, twist was higher in patients with LVH (17,5° vs 13,8°), despite the lower GLS, but it did not reach statistical significance (p=0,077). MD was higher in patients with LVH (72,4 vs 38,3 ms; p<0,001), as well as the prevalence of premature ventricular contractions (PVC) (93,8% vs 61,8%; p=0,001). Non-sustained ventricular tachycardia (NSVT) was also more prevalent in patients with LVH (18,8% vs 9,1%), although not reaching statistical significance (p=0,191). Conclusion FD patients with LVH present lower GLS, with a higher base-to-apex longitudinal strain gradient and higher MD, compared to FD patients without LVH. Although PVC were significantly more frequent in FD patients with LVH, NSVT were not statistically different between both groups. Funding Acknowledgement Type of funding sources: None.