Table 1 Clinical, echocardiographic, electrocardiographic, and cardiac magnetic resonance imaging findings in controls and patients with hypertrophic cardiomyopathy according to sarcomere gene mutations
|  | Control (n = 30) | HCM (n = 212) |  | |
|---|---|---|---|---|
Presence of sarcomere protein gene variant group (n = 67) | Absence of sarcomere protein gene variant group (n = 145) | ‡p | ||
Age, years | 58.9 ± 2.6 | 54.8 ± 14.3 | 61.3 ± 12.8 | 0.001 |
Women, n (%) | 10 (33) | 25 (37) | 38 (26) | 0.106 |
Hypertension, n (%) | 11 (37)* | 28 (42) | 91 (63) | 0.004 |
Diabetes, n (%) | 5 (17) | 12 (18) | 27 (19) | 0.884 |
Persistent AF at echo, n (%) | Â | 11 (16) | 14 (10) | 0.156 |
NSVT at 24-h Holter, n (%) (n = 123) |  | 10 (22) | 7 (9) | 0.049 |
5-year SCD risk, % (n = 123) |  | 2.64 ± 1.51 | 2.01 ± 1.66 | 0.040 |
Echocardiography | ||||
 ApHCM, n (%) |  | 21 (31) | 79 (55) | 0.001 |
 Dynamic obstruction, n (%) |  | 13 (19) | 36 (25) | 0.370 |
 LV ejection fraction, % | 65.7 ± 3.8 | 63.8 ± 7.3 | 64.9 ± 5.8 | 0.239 |
 LA volume index, mL/m2 | 19.8 ± 3.4†| 41.0 ± 22.0 | 34.9 ± 15.0 | 0.045 |
 e’, cm/s | 6.9 ± 1.5†| 5.1 ± 1.8 | 5.1 ± 1.7 | 0.960 |
 a’, cm/s | 10.3 ± 1.7†| 6.9 ± 2.0 | 7.8 ± 1.9 | 0.004 |
 s′, cm/s | 8.8 ± 1.6†| 6.6 ± 1.6 | 6.8 ± 1.8 | 0.408 |
 E, cm/s | 64.5 ± 14.1 | 71.0 ± 23.2 | 68.7 ± 18.0 | 0.463 |
 A, cm/s | 75.7 ± 15.9 | 61.9 ± 19.6 | 72.4 ± 20.8 | 0.001 |
 E/e′ | 9.8 ± 2.8†| 15.4 ± 6.7 | 14.6 ± 5.5 | 0.371 |
 Maximal thickness, mm |  | 19.7 ± 3.7 | 18.6 ± 3.4 | 0.035 |
CMR (n = 135) | ||||
 LVEDV, mL |  | 133.6 ± 28.6 | 135.7 ± 28.2 | 0.698 |
 LVESV, mL |  | 51.7 ± 23.1 | 46.9 ± 18.5 | 0.208 |
 LV mass index, g/m2 |  | 88.0 ± 21.1 | 84.8 ± 23.8 | 0.456 |
 LV mass/volume ratio |  | 1.19 ± 0.32 | 1.14 ± 0.32 | 0.469 |
 Presence of LGE in LV (n = 133) |  | 37 (90) | 55 (60) | < 0.001 |
 Number of LGE segments in LV(n = 133) |  | 4.9 ± 2.8 | 2.9 ± 3.5 | 0.002 |
 % LGE amount of LV(n = 133) |  | 10.6 ± 10.1 | 6.4 ± 9.3 | 0.040 |
 LV myocardial GLS, % |  | −14.6 ± 5.7 | −16.2 ± 4.0 | 0.100 |
 LV endocardial GLS, % |  | −17.5 ± 5.5 | −20.6 ± 4.2 | 0.058 |
 LA minimal volume index, mL/m2 |  | 49.0 ± 35.9 | 37.3 ± 20.4 | 0.053 |
 LA GLS, % |  | 17.7 ± 11.5 | 19.8 ± 9.1 | 0.288 |
 LA total emptying fraction, % |  | 37.0 ± 18.5 | 44.2 ± 12.4 | 0.025 |
 LA reserve fraction, % |  | 73.1 ± 52.1 | 89.3 ± 50.8 | 0.090 |
 LA conduit fraction, % (n = 119) |  | 20.0 ± 11.7 | 21.8 ± 8.3 | 0.433 |
 LA active emptying fraction, % (n = 119) |  | 27.0 ± 14.8 | 31.3 ± 11.3 | 0.093 |