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Table 3 Clinical, anatomic, and hemodynamic characteristics according to the presence of genetic variant

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

  No pathogenic or likely pathogenic variant group (n = 110) 1Only mitochondria related nDNA or mtDNA variant group (n = 33) 1Only sarcomere gene variant group (n = 58) 1Both sarcomere and mitochondria-related gene variant group (n = 9) §P
Age, years 61.1 ± 12.9 61.5 ± 12.3 54.4 ± 14.7**, † 57.0 ± 11.8 0.014
Women, n (%) 31 (28) 6 (18) 21 (36) 4 (44) 0.227
Hypertension, n (%) 69 (63) 21 (64) 26 (45) 2 (22) 0.019
Diabetes, n (%) 21 (19) 6 (18) 10 (17) 2 (22) 0.982
Body surface area, m2 1.78 ± 0.21 1.79 ± 0.20 1.77 ± 0.19 1.70 ± 0.11 0.679
FHx of SCD-1st, n (%) 6 (6) 2 (6) 5 (9) 1 (11) 0.820
Syncope, n (%) 3 (3) 1 (3) 5 (9) 1 (11) 0.270
5-year SCD risk, % (n = 123) 2.01 ± 1.72 2.02 ± 1.45 2.73 ± 1.58* 2.10 ± 0.97 0.163
Echocardiography and CMR
 ApHCM, n (%) 57 (52) 22 (67) 19 (33) 2 (22) 0.004
 LVOT PPG (rest), mmHg 17.4 ± 26.5 8.0 ± 7.4* 10.5 ± 11.9 5.2 ± 2.1 0.005
 LVOT PPG (Valsalva), mmHg 31.2 ± 40.7 17.4 ± 23.4 18.5 ± 21.1* 6.2 ± 2.9 0.025
 Dynamic obstruction, n (%) 31 (28) 5 (15) 13 (22) 0 (0) 0.142
 LVEDV, mL 66.8 ± 22.5 66.2 ± 20.6 69.9 ± 27.1 71.3 ± 34.1 0.730
 LVESV, mL 22.5 ± 8.4 24.8 ± 9.9 24.6 ± 10.2 29.2 ± 20.3 0.145
 LA volume index, mL/m2 35.2 ± 14.9 31.8 ± 11.1 40.6 ± 22.9† 43.6 ± 15.7 0.051
 MR grade 0.49 ± 0.28 0.40 ± 0.21 0.52 ± 0.36 0.56 ± 0.17 0.217
 LV ejection fraction, % 65.7 ± 5.0 62.5 ± 7.6* 64.3 ± 6.9 61.2 ± 8.7* 0.021
 s′, cm/s 6.8 ± 1.7 6.9 ± 2.1 6.6 ± 1.7 7.0 ± 1.4 0.748
 E/e′ 14.8 ± 5.5 13.9 ± 5.3 15.6 ± 6.9 13.5 ± 4.6 0.462
 Maximal thickness, mm 18.7 ± 3.6 18.1 ± 2.6 19.6 ± 3.8† 19.8 ± 3.5 0.164
 LV mass index by CMR, g/m2 (n = 132) 85.1 ± 23.9 84.3 ± 24.3 88.5 ± 22.0 84.7 ± 15.9 0.885
AML lengths
 AML-PLX, mm 32.4 ± 4.5 32.5 ± 4.3 31.7 ± 4.7 29.7 ± 3.7 0.260
 AML-3CH, mm 28.2 ± 3.5 27.7 ± 3.0 28.8 ± 3.9 28.4 ± 4.3 0.633
 AML-average, mm 30.2 ± 3.6 30.2 ± 3.2 30.3 ± 3.9 29.1 ± 3.6 0.834
 iAML-PLX, mm/m2 18.4 ± 2.7 18.4 ± 2.9 18.0 ± 2.9 17.5 ± 2.1 0.671
 iAML-3CH, mm/m2 16.1 ± 2.4 15.7 ± 1.9 16.4 ± 2.4 16.8 ± 2.5 0.408
 iAML-average, mm/m2 17.2 ± 2.3 17.0 ± 2.2 17.2 ± 2.4 17.1 ± 2.1 0.981
  1. One patient with pathogenic variants in GAA was excluded. 1Pathogenic or likely pathogenic mutation or damaging mtDNA variant; §p, p-value for ANOVA. *p < 0.05, **p < 0.01 versus no pathogenic or likely pathogenic variant group; p < 0.05 versus mitochondrial related variant group; See abbreviations in Table 1