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. 2021 Feb 2;29(6):318–329. doi: 10.1007/s12471-021-01539-w

Fig. 1.

Fig. 1

Schematic overview of the study design. The BIO FOr CARe (Identification of BIOmarkers of hypertrophic cardiomyopathy development and progression in Dutch MYBPC3 FOunder variant CARriers) study comprises an observational cohort of Dutch carriers of the c.2373dupG (p.Trp792fs), c.2827C > T (p.Arg943Ter), c.2864_2865delCT (p.Pro955fs) and c.3776delA (p.Gln1259fs) variants in the MYBPC3 gene. These variants are predicted to result in truncated mRNA with absence of truncated protein leading to haploinsufficiency. Subjects across the phenotypic spectrum associated with these variants are prospectively included for blood collection every 2 years and followed up over time. Clinical data are retrospectively collected from the first presentation onwards in a clinical registry to assess potential clinical predictors of disease penetrance and progression. HCM hypertrophic cardiomyopathy