Table 1.
Characteristics of 42 subjects included in the cohort.
| Control | Disease | ||
|---|---|---|---|
| Group | Donor | Mitral Stenosis | HCM |
| NO. of patient samples | 13 | 2 | 27 |
| Female, n (%) | 9 (69) | 2 (100) | 6 (22) |
| Age, year | 50 ± 10 | 49 ± 6 | 54 ± 14 |
| Positive Family Hx, n (%) | 8 (30) | ||
|
| |||
|
Mutations
*
| |||
| MYBPC3, n (%) | 7 (28) | ||
| MYH7, n (%) | 3 (12) |
||
| Others**,***, n (%) | 2 (8) | ||
| VUS or no mutation, n (%) | 13 (52) | ||
|
| |||
|
Medication
| |||
| β-blocker, n (%) | 11 (41) | ||
| Calcium blocker, n (%) | 19 (71) | ||
| Statin, n (%) | 14 (52) | ||
|
| |||
|
Echocardiogram
| |||
| LVEF | 58 ± 6 | 62 ± 6 | 67 ± 7 |
| IVSd, cm | 1.8 ± 0.5 | ||
| LVPWd, cm | 1.4 ± 0.4 | ||
| IVSd/LVPWd ratio | 1.4 ± 0.6 | ||
| LVOT peak grad 40-60 mmHg, n (%) | 2 (8)# | ||
| LVOT peak grad 60-90 mmHg, n (%) | 4 (15) | ||
| LVOT peak grad > 90 mmHg, n (%) | 20 (75) | ||
| LV Mass (ASE Method), g/m2; (LV mass index) | 264 ± 100; (134 ± 45)## | ||
|
| |||
|
Magnetic resonance imaging (MRI)
| |||
| Delayed Enhancement (range) | 1.5 ± 1.7 (0 - 4) | ||
| LV Mass, g/m2; (LV mass index) | 187 ± 43; (94 ± 18)$ | ||
Continuous variables are expressed as mean ± SD and categorical variables as number (percentage); normal LV mass index28 in men, 70.0 ± 8.9 g/m2 and in women, 60.7 ± 8.1 g/m2.
Genetic testing was performed on 25 patients.
one patient had two mutations.
mutations in TNNT, CSRP, and SCN.
in one patient with a resting gradient of 33 mmHg, exercise gradient was not available.
left ventricular mass on 24 patients calculated from echo data.
left ventricular mass on 9 patients calculated from MRI data.
HCM, hypertrophic cardiomyopathy; MYBPC, myosin binding protein C; MYH, myosin heavy chain; VUS, variants of unknown significance; LVEF, left ventricular ejection fraction; IVSd, interventricular septum diameter in diastole; LVPWd, left ventricular posterior wall thickness in diastole; LVOT peak grad, left ventricular outflow tract peak gradient; ASE, American Society of Echocardiography.