Feddo Kirkels

148 | Chapter 7 Table 3. Included ACM studies (continued) First author, year, journal Design Study population Number Age (years) Genotype Software Reant, 2016, Int J Cardiovasc Img CCS Genotype-positive relatives without TFC (possible ACM) 27 40 ± 20 All desmosomal mutation carriers (not specified) GE EchoPAC Mast, 2016, JACC CCS Genotype-positive relatives without TFC (possible ACM) 21 27 ± 14 PKP2 and DSG2 (not specified) GE EchoPAC Aneq, 2012, cardiovascular ultrasound CCS First degree male relatives not fulfilling TFC diagnosis (possible or borderline ACM) 19 median 29 (range 19-73) Not reported GE EchoPAC Mast, 2015, JASE CCS Mutation-positive relatives without definite Task Force diagnosis (possible or borderline ACM) 16 32 ± 14 PKP2 (75%), PLN (12.5%), DSG2 (6.25%), DSC2 (6.25%) GE EchoPAC Abbreviations: ACM = arrhythmogenic cardiomyopathy, CCS = case-control study, CSCS = cross-sectional cohort study, ECG = electrocardiogram, GLS = global longitudinal strain, LCS = longitudinal cohort study, LV = left ventricle/ventricular, LVMD = left ventricular mechanical dispersion, RV = right ventricle/ventricular, RVFWLS = right ventricular free wall longitudinal strain, RVMD = right ventricular mechanical dispersion, TFC = Task Force Criteria, VA = ventricular arrhythmia.

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