Echocardiographic findings and biomarker analysis
| HCM probands | Relatives | P value HCM probands versus G+/LVH+ relatives | P value G+/LVH− versus unaffected | |||
| G+/LVH+ | G+/LVH− | Unaffected | ||||
| (n=60) | (n=49) | (n=59) | (n=117) | |||
| Maximal LVWT, mm | 24.9 (0.7) | 18.2 (0.8) | 9.9 (0.2) | 9.5 (0.1) | <0.0001 | 0.032 |
| LVEDD, mm | 42.8 (1.0) | 44.0 (1.0) | 45.1 (0.7) | 46.4 (0.5) | 0.409 | 0.116 |
| LVEDD indexed to BSA, mm/m2 | 21.7 (0.5) | 22.4 (0.5) | 25.0 (0.6) | 25.4 (0.4) | 0.249 | 0.695 |
| LVESD, mm | 27.1 (0.8) | 27.6 (0.9) | 29.0 (0.6) | 30.2 (0.4) | 0.717 | 0.059 |
| LVESD indexed to BSA, mm/m2 | 13.7 (0.4) | 14.0 (0.4) | 16.1 (0.4) | 16.42 (0.3) | 0.619 | 0.331 |
| Left atrial diameter, mm | 42 (0.9) | 40.0 (1.0) | 33.6 (0.6) | 34.2 (0.4) | 0.109 | 0.406 |
| Left atrial volume indexed to BSA, mm/m2 | 46.0 (2.3) | 37.3 (2.4) | 24.6 (0.9) | 25.2 (0.6) | 0.008 | 0.596 |
| Ratio of LVWT to LVEDD | 0.61 (0.02) | 0.42 (0.02) | 0.23 (0.005) | 0.20 (0.004) | <0.0001 | 0.008 |
| Relative wall thickness | 0.51 (0.02) | 0.42 (0.02) | 0.37 (0.01) | 0.34 (0.007) | 0.001 | 0.025 |
| LVEF, % | 64.0 (1.5) | 66.4 (1.5) | 64.9 (1.0) | 63.9 (0.7) | 0.267 | 0.350 |
| Peak LV outflow tract gradient, mm Hg | 18.3 (3.0) | 8.0 (3.1) | 7.1 (0.3) | 6.7 (0.2) | 0.011 | 0.255 |
| Peak LV outflow tract gradient>30 mm Hg | 9 (15%) | 0 | 0 | 0 | 0.003 | |
| Tissue Doppler velocities: | ||||||
| Septal E', cm/s | 5.7 (0.3) | 8.1 (0.3) | 10.1 (0.3) | 9.8 (0.2) | <0.0001 | 0.384 |
| Lateral E', cm/s | 8.2 (0.4) | 10.7 (0.4) | 13.6 (0.4) | 13.2 (0.3) | <0.0001 | 0.395 |
| Septal S', cm/s | 7.0 (0.2) | 7.7 (0.23) | 8.3 (0.20) | 8.2 (0.1) | 0.025 | 0.956 |
| Lateral S', cm/s | 7.4 (0.3) | 9.0 (0.30) | 10.2 (0.3) | 9.7 (0.2) | 0.0001 | 0.278 |
| Septal E/E' ratio, cm/s | 15.6 (0.8) | 10.7 (0.86) | 8.5 (0.3) | 8.7 (0.2) | <0.0001 | 0.549 |
| Lateral E/E' ratio, cm/s | 11.4 (0.7) | 8.3 (0.8) | 6.4 (0.3) | 6.6 (0.2) | 0.003 | 0.761 |
| Septal morphology: | ||||||
| Reverse curvature septum | 54 (90%) | 34 (69%) | 0.019 | |||
| Sigmoid septum | 2 (3.3%) | 1 (2.0%) | 0.488 | |||
| Apical hypertrophy | 0 | 3 (6.1%) | 0.052 | |||
| Neutral septum | 4 (6.7%) | 11 (22%) | 0.040 | |||
| Biomarkers | ||||||
| NT-proBNP, pg/ml | 349 (1.2) | 116 (1.2) | 50.8 (1.1) | 34.6 (1.1) | <0.0001 | <0.0001 |
| High-sensitivity troponin I, ng/mL | 12.3 (1.2) | 3.9 (1.2) | 1.4 (1.1) | 1.1 (1.1) | <0.0001 | 0.332 |
| PICP, µg/L | 103 (4.7) | 100 (5.0) | 122 (5.5) | 118 (3.8) | 0.749 | 0.329 |
Values are adjusted means (SE) or numbers and proportions (%). P values were adjusted for age, sex and within-family correlation.
BSA, body surface area; LV, left ventricular; LVEDD, left ventricular end-diastolic dimension; LVEF, left ventricular ejection fraction; LVESD, left ventricular end-systolic dimension; LVWT, left ventricular wall thickness; NT-proBNP, N-terminal pro-B natriuretic peptide; PICP, carboxy-terminal propeptide of procollagen type I.