Table 1.
Baseline characteristics in sarcomere mutation carriers with and without left ventricular hypertrophy compared to healthy mutation-negative family member controls
| G+/LVH+ HCM (N = 34) |
G+/LVH- Preclinical (N = 24) |
G−/LVH- Control (N = 15) |
P-value* overall |
P-value* Preclinical vs Control |
P-value* HCM vs Preclinical |
P-value* HCM vs Control |
|
|---|---|---|---|---|---|---|---|
| Age, years | 33 ± 12 | 27 ± 10 | 24 ± 6 | <0.001 | 0.1 | <0.001 | <0.001 |
| Male, n (%) | 25 (74%) | 12 (50%) | 7 (47%) | 0.003 | 0.8 | 0.008 | 0.007 |
| G+ mutation, n (%) | |||||||
| MYH7 | 6 (18%) | 11 (46%) | 0 | ||||
| MYBPC3 | 21 (62%) | 10 (42%) | 0 | ||||
| TNNT2 | 5 (14%) | 1 (4%) | 0 | ||||
| TNNI3 | 1 (3%) | 1 (4%) | 0 | ||||
| MYL2 | 1 (3%) | 0 (0%) | 0 | ||||
| MYL3 | 0 (0%) | 0 (0%) | 0 | ||||
| ACTC | 0 (0%) | 1 (4%) | 0 | ||||
| BMI,kg/m2 | 28.0 ± 4.3 | 24.0 ± 3.8 | 27.0 ± 4.5 | 0.4 | 0.6 | 0.2 | 0.4 |
| SBP, mmHg | 120 ± 11 | 115 ± 13 | 122 ± 14 | 0.7 | 0.5 | 1.0 | 0.7 |
| DBP, mmHg | 70 ± 7 | 70 ± 8 | 71 ± 9 | 0.6 | 0.8 | 0.4 | 0.7 |
| IVS, mm | 16.0 ± 5.3 | 9.0 ± 1.2 | 8.9 ± 1.2 | <0.001 | 0.5 | <0.001 | <0.001 |
| PW, mm | 10.0 ± 2.2 | 7.9 ± 1.2 | 7.8 ± 1.6 | <0.001 | 0.3 | <0.001 | <0.001 |
| Maximal LVWT, mm | 16.0 ± 5.1 | 10.0 ± 2.1 | 9.7 ± 1.5 | <0.001 | 0.7 | <0.001 | <0.001 |
| LVEF, % | 66 ± 9.4 | 63.0 ± 6.3 | 60.0 ± 4.4 | 0.003 | 0.8 | 0.008 | <0.001 |
| Max LVOT, m/s | 1.3 ± 0.2 | 1.3 ± 0.2 | 1.6 ± 0.5 | 0.036 | 0.7 | 0.052 | 0.2 |
| LV mass, g | 189 ± 53 | 121 ± 29 | 136 ± 34 | <0.001 | 0.1 | <0.001 | <0.001 |
| LV massi, g/m2 | 93 ± 24 | 66 ± 15 | 72 ± 15 | <0.001 | 0.2 | <0.001 | 0.012 |
| LVEDVi, ml/ m2 | 45 ± 14 | 47 ± 9.3 | 51 ± 14 | 0.4 | 0.5 | 0.6 | 0.4 |
| Septal e’ (cm/s) | 9.8 ± 2.9 | 12 ± 2.0 | 14 ± 2.0 | <0.001 | 0.003 | 0.047 | <0.001 |
| Septal e’/a’ ratio | 1.2 ± 0.4 | 1.7 ± 0.5 | 1.9 ± 0.6 | 0.001 | 0.026 | 0.3 | <0.001 |
| Lateral e’ (cm/s) | 14 ± 4.2 | 16 ± 2.4 | 16 ± 3.0 | 0.4 | 0.6 | 0.5 | 0.6 |
| Lateral e’/a’ ratio | 1.7 ± 0.8 | 2.2 ± 1.0 | 2.5 ± 1.0 | 0.15 | 0.6 | 0.7 | 0.2 |
| Global E’, cm/s | 12 ± 3.4 | 15 ± 1.9 | 16 ± 2.3 | <0.001 | 0.1 | <0.001 | <0.001 |
| Log-NT-proBNP, pg/mL | 286 ± 464 | 51 ± 43 | 30 ± 28 | <0.001 | 0.5 | <0.001 | <0.001 |
| LGE, n, % present | 17 (50%) | 0 (0%) | 0 (0%) | – | – | – | – |
LVH was based on echocardiographic core laboratory measurements, defined as a maximal LV wall thickness (LVWT) ≥12 mm in adults or a z-score ≥ 3 in participants <18 years of age. LV left ventricular, SBP systolic blood pressure, DBP diastolic blood pressure, BSA body surface area, IVS interventricular septum thickness measured by echocardiography, PW posterior wall thickness measured by echocardiography, Max LVWT maximal left ventricular wall thickness, measured by MRI, defined as the largest measurement in each of four segments (anterior and posterior septal, lateral and inferior), LVEF left ventricular ejection fraction, Max LVOT maximal left ventricular outflow tract velocity, LVEDVi Left ventricular End Diastolic Volume indexed to BSA, E’ tissue Doppler early diastolic myocardial relaxation velocity, LGE late gadolinium enhancement. Values represent mean and SD unless otherwise indicated
*Adjusted for age, gender, BSA and family relationships; P values ≤0.017 were considered to indicate statistical significance, applying Bonferroni correction for multiple comparisons across the three groups