Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (?-Gal A), resulting in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), causing multiple organ dysfunctions. Objective: To perform GLA gene screening in a group of patients with echocardiographic diagnosis of hypertrophic cardiomyopathy (HCM). Methods: a cross-sectional study was conducted with HCM patients from a university hospital. Patients with coronary artery […]

Abstract Background: Left ventricular hypertrophy (LVH) is very common in hemodialysis patients and an independent risk factor for mortality in this population. The myocardial remodeling underlying the LVH can affect ventricular repolarization causing abnormalities in QT interval. Objective: to evaluate the reproducibility and reliability of measurements of corrected QT interval (QTc) and its dispersion (QTcd) and correlate these parameters with LVH in hemodialysis patients. Methods: Case-control study involving hemodialysis patients and a control group. Clinical examination, blood sampling, transthoracic echocardiogram, […]