142 | Chapter 7 Table 2. Included HCM studies First author, year, journal Design Study population Number Age (years) Genotype Software van Velzen, 2019, Neth Heart J CCS + LCS HCM genotypepositive individuals with LV wall thickness <13 mm and LVEF ≥50% 120 41 ± 13 Predominantly MYBPC3 (77%) TomTec Haland, 2017, Open Heart CCS Sarcomere mutation carriers with LV wall thickness <13 mm and no symptoms 100 36 ± 15 Predominantly MYBPC3 (58%) and MYH7 (29%) GE EchoPAC Ho, 2009, Circ Cardiovasc Genet CCS Genotype-positive relatives with LV wall thickness <12 mm 68 24 ± 12 Predominantly MYH7 (50%) and MYBPC3 (37%) GE EchoPAC Williams, 2018, Am J Cardiol CCS Genotype-positive relatives with LV wall thickness <12 mm 60 30 ± 10 Majority MYBPC3 and MYH7 (rates not specified) Siemens VVI Baudry, 2020, EHJ cvi CCS Genotype-positive relatives with LV wall thickness <13 mm 53 (20 derivation cohort, 33 validation cohort) Derivation cohort: 31 [IQR 24-44], validation cohort: 42 [IQR 34-47] Predominantly MYBPC3 (53%) and MYH7 (28%) GE EchoPAC Yiu, 2012, PLoS one CCS Genotype-positive first-degree relatives without HCM diagnosis 47 42 ± 17 MYBPC3 (83%) and MYH7 (17%) GE EchoPAC Kauer, 2017, EHJ cvi CCS Genotyped relatives without major or minor criteria for HCM 41 37 ± 11 Mutations in 56%, predominantly MYBPC3 (46%). Philips QLAB
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