Feddo Kirkels

158 | Chapter 7 Selection, Q2: Representativeness of the cases (1p) Cases were considered representative if relatives were consecutively included over a certain time period, or in case of a random sample of relatives. Selection, Q3: Selection of controls (1p) Studies that included mutation-positive relatives were awarded a point if the control group consisted of genotype-negative relatives. In case of non-genotyped relatives, a control group with community controls (i.e. healthy volunteers) was considered to be an appropriate control group. Selection, Q4: Definition of controls (1p) A point was awarded if control subjects were genotype-negative and/or not related to a patient with genetic cardiomyopathy. Comparability, Q1: Comparability of cases and controls (2p) Studies were awarded points on the basis of comparability between relatives and controls at baseline. One point was awarded per variable (typically age and sex) that was comparable between relatives and controls (with a significance level of p>0.05) or adjusted for confounding, with a maximum of two points. Exposure, Q1: Ascertainment of exposure (1p) Exposure was defined as the presence of abnormalities measured by deformation imaging. A point was awarded when the deformation imaging analysis was performed blind for the case/ control status and for other relevant clinical data. Exposure, Q2: Same method for ascertainment of cases and controls (1p) A point was awarded if the same method for deformation imaging was used in relatives and control subjects. Exposure, Q3: Non-response rate (1p) In this question we assessed exclusion of cases because of insufficient image quality. Studies were awarded a point if it was reported that the exclusion rate was comparable between relatives and control subjects. Newcastle – Ottawa Quality Assessment Scale for cohort studies Selection, Q1: Representativeness of the exposed cohort (1p) Exposure was defined as the presence of abnormalities measured by deformation imaging at baseline. A point was awarded if relatives were consecutively or randomly included at baseline, regardless of their measurements by deformation imaging. Selection, Q2: Selection of the non-exposed cohort (1p) A point was awarded if the study reported comparative analysis of exposed and non-exposed relatives (i.e. relatives with and without deformation imaging abnormalities).

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