Table 3.
Echocardiographic analyses for MYBPC3 and MYH7 in PMBB
| Echo parameter | MYBPC3 median (IQR) | Control median (IQR) | Beta | SE | P | MYBPC3 N | Control N |
|---|---|---|---|---|---|---|---|
| LVPW diastolic thickness, max (cm) | 1.320 (1.160, 1.525) | 1.100 (0.951, 1.284) | 0.257 | 0.043 | 2.86E-09 | 31 | 11 928 |
| IVS diastolic thickness, max (cm) | 1.510 (1.203, 1.871) | 1.150 (0.989, 1.340) | 0.414 | 0.050 | 7.68E-17 | 30 | 11 854 |
| LA volume index, max (ml/m2) | 48.593 (40.224, 52.374) | 33.725 (24.929, 44.948) | 12.567 | 3.744 | 7.89E-04 | 22 | 8128 |
| LVOT peak gradient, max (mmHg) | 6.554 (4.162, 9.000) | 4.410 (3.254, 6.052) | 2.605 | 0.500 | 1.91E-07 | 29 | 8807 |
| Echo parameter | MYH7 median (IQR) | Control median (IQR) | Beta | SE | P | MYH7 N | Control N |
| LVPW diastolic thickness, max (cm) | 1.130 (0.934, 1.285) | 1.100 (0.951, 1.284) | 0.045 | 0.014 | 1.63E-03 | 303 | 11 928 |
| IVS diastolic thickness, max (cm) | 1.190 (1.001, 1.390) | 1.150 (0.989, 1.340) | 0.071 | 0.016 | 1.09E-05 | 300 | 11 854 |
| LA volume index, max (ml/m2) | 36.796 (27.763, 50.182) | 33.725 (24.929, 44.948) | 5.235 | 1.242 | 2.51E-05 | 214 | 8128 |
| LVOT peak gradient, max (mmHg) | 4.801 (3.467, 6.554) | 4.410 (3.254, 6.052) | 0.458 | 0.187 | 1.41E-02 | 222 | 8807 |
Note: Top: comparison of echocardiographic parameters representative of HCM with gene burden of pLOF variants and adjudicated pathogenic missense variants from SHaRE in MYBPC3 versus non-carriers. Carriers of pLOF variants and pDM variants with REVEL ≥ 0.5 in MYH7 were removed from this analysis. Median and IQR ranges for each echo parameter are listed for each test group, and association results are listed as beta, SE and P-value. The number of individuals with each echo parameter available is also listed per test group. The median (IQR) age for the MYBPC3 carrier group was 64 (60, 72) (N = 31). Bottom: comparison of echocardiographic parameters representative of HCM with gene burden of pLOF variants and pDM variants with REVEL ≥ 0.5 in MYH7 versus non-carriers. Carriers of pLOF variants and adjudicated pathogenic missense variants from SHaRE in MYBPC3 were removed from this analysis. Median and IQR ranges for each echo parameter are listed for each test group, and association results are listed as beta, SE and P-value. The number of individuals with each echo parameter available is also listed per test group. The median (IQR) age for the MYH7 carrier group was 67 (54, 76) (N = 303).