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. 2018 Jul 31;19(8):2234. doi: 10.3390/ijms19082234

Table 1.

Contractile characteristics of hypertrophic cardiomyopathy heart muscle.

Mutation, Gene Expression and Mutated (mut) Allele Expression Phosphorylation Level (Cardiomyopathy/Healthy) Titin Isoforms and Passive Stiffness (Cardiomyopathy/Healthy) Maximal Force and Myofibril Density (Cardiomyopathy/Healthy) Contractile Kinetics Parameters (Cardiomyopathy/Healthy) Ca2-Sensitivity of Force (Cardiomyopathy/Healthy) Length Dependent Activation Changes upon Stretch (Cardiomyopathy/Healthy) Effect PKA on EC50 (in µM) Patient Information (Sex, Age and Number of Patients)
Expression Myocyte Myofibril Activation Relaxation +PKA +PKA
Diagnosis Gene with Mutation Mutation and Type: Truncated (T) or Not (NT) Gene Mut Allele TnI MyBP-C LC2 N2AB/N2B Passive Stiffness F max Myofibril Density F max k ACT k TR t LIN k LIN k REL EC 50 n H EC 50 ΔEC50 ΔF ΔEC50 ΔF ΔEC50 Sex M/F Age N Refs
HCM MYBPC3 g.T2604A+C del at 2605 T 0.64 * 0.34 * 0.64 1 1.14 0.42 M 42 1 [65,66]
HCM MYBPC3 T 0.18 0.75 0.85 * 0.79 * 0.96 0.57 * 1.16 1.01 0.94 0.88 * M/F 22–69 17 [67]
HCM MYBPC3 T 0.67 0.69 * 0.82 1.46 0.71 * 0.83 * 0.84 * 1 0.61 * 1.04 1.13 M/F 22–69 17 [68]
HCM MYBPC3 T/NT 0.68 * 0.69 * 0.85 * 1 1 MF 32–69 28 [57]
HCM MYBPC3 p.R502W NT 0.8 * 0.75 1.10 0.35 M 23 1 [65]
HCM MYBPC3 NT 0.09 0.64 0.44 * 0.56 * 0.93 0.29 * 0.28 * 0.18 * 0.25 * 1.45 * M/F 31–51 4 [67]
HCM MYH7 p.R719Q NT 0.79 1.16 1.01 F 27 1 [65]
HCM MYH7 NT 0.22 0.58 0.54 * 0.56 * 0.88 * 0.26 * 0.44 * 0.42 * 0.38 * 0.97 * M/F 25–61 4–6 [67]
fHCM MYH7 p.R403Q NT 0.35 * 0.93 0.3 0.56 * 1.92 * 2.02 * 0.75 * 4 * 1.76 * M 24 1 [69,70,71]
fHCM MYH7 p.R403Q NT 0.5 0.6 0.83 1.84 2.9 1.77 M 35 1 [69,70,71]
fHCM MYH7 p.R403Q NT 0.45 0.6 0.91 1.52 2.7 1.99 F 39 1 [69,70,71]
fHCM MYH7 p.R723G NT 0.7 0.54 * 1.41 * M 38, 55 2 [72]
fHCM MYH7 p.R723G NT 0.68 0.11 * 0.42 * 0.42 * 0.72 * 0.69 * 0.74 * 0.93 1 1.28 * 1.44 * M/F 53, 55 2 [73,74]
fHCM MYH7 p.A200V NT 0.53 0.48 * 1.12 * F 19 1 [72,75]
fHCM MYH7 NT 0.39 * 0.79 * 0.65 * 1 M/F 19–61 11 [57]
fHCM TPM1 p.I284V NT 0.40 * 0.70 * 0.62 * M 65 1 [57]
HCM TPM1 p.M281T NT 0.07 0.55 0.48 * 0.67 * 0.95 0.39 * 0.72 −0.2 * 0.06 * 1.08 * M 65 1 [67]
HCM TNNT2 p.K280N NT 0.96 1.07 0.70 0.80 * 0.76 * 0.45 * 0.34 0.30 * 0.15 * 0.12 M 26 1 [67]
HCM TNNT2 p.K280N NT 0.56 0.78 * 0.73 * M 26 2 [57]
HCM TNNI3 p.R145W NT 0.55 * 0.58 * 0.84 M 46, 66 2 [57]
HCM TNNI3 p.R145W NT 0.09 0.49 0.29 0.88 * 1.18 * 0.38 * 0.03 * 0.34 * 0.08 * 0.99 * M 46, 66 2 [67]
HCM MYH7(2) MYBPC3(1) NT 0.25 * 0.14 * 0.91 0.70 0.85 0.61 * 1 1.1 * 0.49 * 1.26 M/F 23–61 6 [65,70]
HCM none 0.18 0.4 0.81 * 0.86 * 0.93 0.49 * 1.2 1.06 * 1.2 0.73 M/F 46–75 3–7 [67]
HCM none 1 0.71 * 0.92 * 0.78 * 1 M/F 35–75 3–14 [57]
HCM none 0.60 * 0.54 * 1 0.75 * 0.8 * 0.81 * 1 0.49 * 0.94 0.97 M/F 46–75 11 [68]
HCM none 1.0 0.84 1.01 2.1 1.59 M/F 35–72 9 [71]
HCM none 0.61 1.09 0.54 M 59 1 [65]
HCM none 0.35 1.05 0.45 F 61 1 [65]
HCM none 0.42 1.12 0.49 M 58 1 [65]

The value changes were normalized to healthy control hearts (Cardiomyopathy/Healthy) if not otherwise specified. The parameters of length dependent activation are shown as a difference in EC50 and Fmax between long and short sarcomere lengths. Passive stiffness was evaluated as a Young’s modulus or as a passive tension generated by muscle at stretch. In some cases, approximate values are given. * p < 0.05. HCM—hypertrophic cardiomyopathy, fHCM—familial HCM, PKA—protein kinase A. The table cells are highlighted according to the value changes compared to control: yellow—no changes, green—the value decreased, blue—the value increased.