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Table 1 Comparison between sarcomere protein gene variant group and non-variant group

From: Genetic relevance and determinants of mitral leaflet size in hypertrophic cardiomyopathy

  Total (n = 211) Sarcomere protein gene variant group (n = 67)
Presence of sarcomere protein gene variant group (n = 67) Absence of sarcomere protein gene variant group (n = 144) P Thick filament gene variant group (n = 52) Thin filament or regulatory gene variant group (n = 15) P
Age, years 54.8 ± 14.3 61.3 ± 12.8 0.001 55.3 ± 13.0** 52.9 ± 18.5* 0.557
Women, n (%) 25 (37) 38 (26) 0.106 23 (44)* 2 (13)†† 0.029
Hypertension, n (%) 28 (42) 91 (63) 0.004 22 (42)** 6 (40)** 0.873
Diabetes, n (%) 12 (18) 27 (19) 0.884 9 (17) 3 (20) 0.811
Body surface area, m2 1.76 ± 0.18 1.78 ± 0.21 0.596 1.74 ± 0.19 1.82 ± 0.13 0.135
FHx of SCD-1st, n (%) 6 (9) 8 (6) 0.356 4 (8) 2 (13) 0.500
Syncope, n (%) 6 (9) 4 (3) 0.049 6 (12)* 0 (0) 0.168
5-year SCD risk, % (n = 123) 2.64 ± 1.51 2.01 ± 1.66 0.040 2.56 ± 1.38 2.88 ± 1.92 0.538
Echocardiography and CMR
 ApHCM, n (%) 21 (31) 79 (55) 0.001 13 (25)** 8 (53)†† 0.037
 LVOT PPG (rest), mmHg 9.9 ± 11.6 15.0 ± 23.3 0.041 10.1 ± 12.4 9.5 ± 8.7 0.874
 LVOT PPG (Valsalva), mmHg 15.9 ± 19.2 28.2 ± 37.5 0.005 16.7 ± 20.8 12.8 ± 11.0 0.556
 Dynamic obstruction, n(%) 13 (19) 36 (25) 0.370 12 (23) 1 (7) 0.157
 LVEDV, mL 70.6 ± 28.1 66.5 ± 21.9 0.252 71.1 ± 28.7 68.7 ± 26.6 0.770
 LVESV, mL 25.4 ± 12.0 23.1 ± 8.8 0.106 26.1 ± 12.9 23.0 ± 7.9 0.374
 LA volume index, mL/m2 41.0 ± 22.0 34.8 ± 15.0 0.042 39.5 ± 19.1 46.1 ± 30.4* 0.307
 MR grade 0.52 ± 0.35 0.47 ± 0.26 0.216 0.51 ± 0.39 0.57 ± 0.18 0.585
 LV ejection fraction, % 63.8 ± 7.3 64.9 ± 5.8 0.239 63.0 ± 7.8 66.6 ± 4.5 0.096
 s′, cm/s 6.6 ± 1.6 6.8 ± 1.8 0.408 6.6 ± 1.6 6.6 ± 1.9 0.905
 E/e′ 15.4 ± 6.7 14.6 ± 5.5 0.371 15.2 ± 6.6 16.3 ± 7.2 0.571
 Maximal thickness, mm 19.7 ± 3.7 18.6 ± 3.4 0.035 20.1 ± 3.5** 18.1 ± 4.1†† 0.061
 LV mass index by CMR, g/m2 (n = 132) 88.0 ± 21.1 84.9 ± 23.9 0.458 83.8 ± 18.3 102.9 ± 24.3* 0.014
AML lengths
 AML-PLX, mm 31.4 ± 4.6 32.5 ± 4.4 0.109 30.8 ± 4.5* 33.5 ± 4.6 0.046
 AML-3CH, mm 28.7 ± 3.9 28.1 ± 3.4 0.230 28.4 ± 3.9 30.0 ± 3.9 0.187
 AML-average, mm 30.1 ± 3.9 30.2 ± 3.5 0.848 29.6 ± 3.8 31.9 ± 3.8 0.045
 iAML-PLX, mm/m2 18.0 ± 2.8 18.5 ± 2.8 0.222 17.8 ± 2.8 18.4 ± 2.6 0.453
 iAML-3CH, mm/m2 16.5 ± 2.4 16.0 ± 2.3 0.164 16.5 ± 2.6 16.5 ± 1.7 0.941
 iAML-average, mm/m2 17.2 ± 2.4 17.2 ± 2.3 0.907 17.1 ± 2.5 17.5 ± 1.9 0.599
  1. Thick filament genes include MYH7, MYBPC3, MYH6, and MYL3. *p < 0.05, **p < 0.01 versus absence of sarcomere gene variant group. AML anterior mitral leaflet, PLX parasternal long axis view, 3CH three chamber view, iAML indexed AML, FHx family history, SCD-1st sudden cardiac death of 1st degree relatives, LV left ventricular, LVEDV LV end-diastolic volume, LVESV LV end-systolic volume, LVESWS LV end-systolic wall stress, LA left atrial, LVOT LV outflow tract, PPG peak pressure gradient, MR mitral regurgitation, s’ peak systolic septal mitral annular velocity, E/e’ ratio of early mitral inflow and annular velocity, CMR cardiac magnetic resonance imaging †p < 0.05, ††p < 0.01 versus thick sarcomere gene mutation group