146 | Chapter 7 Table 3. Included ACM studies First author, year, journal Design Study population Number Age (years) Genotype Software Lie, 2018, JACC CVI LCS Genotype-positive relatives without life-threatening VA at baseline 83 39 ± 16 for total cohort (including 34 probands) All desmosomal mutation carriers (not specified) GE EchoPAC Leren, 2017, JACC CVI CSCS Early ACM (possible/ borderline diagnosis), of which 79% are genotypepositive relatives 73 41 ± 16 for total cohort (also including 86 probands) All desmosomal mutation carriers (not specified) GE EchoPAC Chivulescu, 2019, EHJ LCS Genotype-positive relatives without major structural TFC 73 38 ± 18 for all relatives (also including 3 relatives with major structural TFC) PKP2 (92%), DSP (4%), DSG2 (4%) GE EchoPAC Mast, 2019, JACC cvi LCS First-degree relatives without electrical or structural TFC (possible ACM) 37 26 ± 14 Predominantly PKP2 (65%). Also 22% relatives of gene-elusive index patients GE EchoPAC Taha, 2020, JACC cvi LCS Genotype-positive relatives without definite TFC diagnosis (possible and borderline ACM) 34 Not reported Predominantly desmosomal (not specified) GE EchoPAC Mast, 2016, J Cardiovasc Electrophysiol CCS + LCS Genotype-positive first-degree relatives without definite TFC diagnosis and without VA or symptoms (possible and borderline ACM) 31 30 ± 14 PKP2 (90%) and DSG2 (10%) GE EchoPAC Sarvari, 2011, EHJ CCS Genotype-positive first-degree relatives without palpitations, syncopes, arrhythmias or heart failure (possible and borderline ACM) 27 38 ± 18 PKP2 (89%), DSP (11%) GE EchoPAC
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