117 Echocardiographic changes in Fabry disease LV diastolic function was defined as normal, dysfunction (grade I, II and III) or indeterminate on the basis of Doppler mitral inflow pattern parameters, including early (E) and late (A) LV filling velocities, E/A ratio, and tissue Doppler imaging–derived septal e’ according to the European Society of Cardiology recommendations published in 2016 [27]. Clinical characteristics and cardiovascular events in FD patients Cardiac enzymes in plasma (NT-proBNP and hs-TnT), kidney function and microalbuminuria data were extracted from the medical records for the time points closest to the echocardiogram date (with a range of ±1 year for kidney function and microalbuminuria and ±3 months for the cardiac enzymes). Renal function was approximated by calculating the estimated Glomerular filtration rate (eGFR) using the CKD-EPI formula [28]. Microalbuminuria was expressed as the amount of albumin in the collected 24 hours urine sample. The presence of cardiovascular risk factors (smoking, obesity, diabetes mellitus, dyslipidemia and hypertension) and the use of cardiovascular (preventive) medication in FD patients were assessed between the time points at which the echocardiograms were performed. The occurrence of major cardiovascular events (MACE) (combined endpoint cardiovascular death (CVD), heart failure (HF) hospitalisation, sustained ventricular arrhythmias (SVAs) and myocardial infarction) and atrial fibrillation (AF) after the first echocardiogram was recorded by data extraction from medical records [8]. Statistical methods For statistical analysis, R (version 4.0.3) was used. The general clinical characteristics are presented as proportions or medians and minimum/ maximum ranges. Descriptives of the echocardiographic features show the median with an interquartile range (IQR) for each participant subgroup (men with FD, women with FD, healthy men and healthy women) for each age decade. Generalized Linear mixed-effect models (GLM) were used to evaluate the effect of age at the time of an echocardiogram, study subject type (FD patient or healthy control) and sex on changes in five main echocardiographic morphological and functional features: IVSd, RWT, LVMi, LAVI and E/e’. All GLM included a random intercept and slope to account for inter-patient variations. The model assumptions were validated and met [29]. Because of the assumption that the effect of age on echocardiographic parameters would be different between men and women and between FD patients and healthy controls, we tested for three-way interactions (age * type (Fabry patient or Healthy control) 4
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