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Table 1 Clinical, echocardiographic, electrocardiographic, and cardiac magnetic resonance imaging findings in controls and patients with hypertrophic cardiomyopathy according to sarcomere gene mutations

From: Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy

  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 (%)   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
  1. *p < 0.05; p < 0.01, compared with total patients with hypertrophic cardiomyopathy; p, comparisons between patients with and without sarcomere gene mutations; HCM hypertrophic cardiomyopathy; ApHCM apical HCM; AF atrial fibrillation; NSVT non-sustained ventricular tachycardia; SCD sudden cardiac death; LV left ventricle; LVEDV LV end-diastolic volume; LVESV LV end-systolic volume; LVEF LV ejection fraction; LA left atrial; e’ early diastolic mitral annular velocity; a’ late diastolic mitral annular velocity; s’, systolic mitral annular tissue velocity; E early diastolic transmitral inflow velocity; A late diastolic transmitral inflow velocity; LGE late gadolinium enhancement, GLS global longitudinal strain