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 |