115 Echocardiographic changes in Fabry disease Methods Study setting Amsterdam UMC, location AMC is the national reference centre for FD. Outpatient clinic follow-up visits for classical FD patients are scheduled semiannually, annually or biannually, depending on sex, age and treatment status of the patient. The protocolized follow-up visits include blood tests (among which plasma creatinine, globotriaosylsphingosine (LysoGb3), highsensitivity Troponin T (hs-TnT) and NT-proBNP), urine analysis (24 hour creatinine and albumin excretion), imaging (CMR and echocardiography) and electrocardiography. Study population FD patients Classification into classical or non-classical FD phenotype is based on the presence of classical FD symptoms (cornea verticillata, acroparesthesia or angiokeratoma), family history (in women), known mutation-phenotype associations, residual enzyme activity and the levels of a deacylated form of Gb3 (Globotriaosylsphingosine (LysoGb3)) [5-7]. See supplemental figure 1 for the flowchart for FD diagnosis and phenotype allocation [8]. Patients in whom two echocardiograms were obtained with a minimum followup time between the first and last echocardiogram of five years were included in this study. The study includes patients with classical FD only. The number of patients with non-classical FD with two echocardiography examinations with a minimum of two years between them was too small. Healthy volunteers To assess the difference between echocardiographic features in FD patients and the general population, we used cross-sectional data from a general population study that was previously conducted at the Erasmus MC in Rotterdam, The Netherlands. This study included healthy volunteers who were ≥ 18 years of age. Exclusion criteria were: (prior) cardiovascular disease, systemic disease, the use of medication for cardiac conditions, abnormalities during the physical examination pointing towards cardiac disease or cardiovascular risk factors (hypertension: systolic and diastolic blood pressure >140/80mmHg, diabetes mellitus and hypercholesterolemia). Professional athletes, morbidly obese participants (BMI >40 kg/m2) and women who were pregnant or had breast implants were excluded as well [24]. 4
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