Mohamed El Sayed

65 ECG changes in Fabry disease Methods Study population and design FD patients This retrospective cohort study was conducted at the FD centre of excellence in the Netherlands (AUMC, location University of Amsterdam). All available ECGs from adult (≥ 18 years) patients with classical FD obtained between February 1996 and July 2018 were included. The ECGs were obtained as part of the routine clinical follow-up (outpatient clinical visits are every 6 to 12 months, depending on age, sex and treatment status of the patient) or during hospital admissions. All patients of whom ECGs were included had a definite diagnosis of classical FD. The diagnosis and phenotype assignment were based on alpha-galactosidase A in leucocytes, family history (for women), classical FD symptoms and the levels of a deacylated form of Gb3 (Globotriaosylsphingosine (LysoGb3)) (supplemental figure 1) [9, 10, 13, 14]. Control group ECGs of apparently healthy subjects of Dutch origin were collected between January 2011 and November 2015 as part of the baseline data collection of the ‘HELIUS’ study (Healthy Life in an Urban Setting – a large prospective cohort study in Amsterdam, The Netherlands) [24]. HELIUS is a multi-ethnic study, including roughly equally sized groups of Surinamese (South-Asian and African), Ghanaian, Turkish, Moroccan and Dutch origin participants, and was designed to study the (causes of the) unequal burden of disease across ethnic groups. To increase comparability with the FD cohort, of which the vast majority is of Dutch origin, only HELIUS participants with Dutch origin were selected as controls. In addition, age was restricted to 18-65 for men, and 18-71 for women, since this was the age range in FD patients. Baseline measurements of HELIUS included a single ECG during a physical examination at the research location, collection of biological samples and questionnaires [24, 25]. Individuals with and without cardiovascular risk factors (including smoking, hypertension, obesity, diabetes mellitus and the use of anti-lipaemics, full list and definitions can be found in table 1) were included, but they had to be free from apparent cardiovascular disease (myocardial infarction or stroke) as determined by self-report, medication use and ECG evaluation. We chose a control group in which cardiovascular risk factors were present since these same risk factors were also present in a significant number of the included FD patients (table 1). 3

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