Table 2.
Genotype–phenotype associations in DCM patients.
| TTN (n = 20) | LMNA (n = 13) | Others (n = 87) | p value, TTN vs LMNA | p value, TTN vs Others | p value, LMNA vs Others | |
|---|---|---|---|---|---|---|
| Age at diagnosis (years) | 44.2 ± 11.7 | 41.4 ± 11.1 | 37.7 ± 14.6 | 0.519 | 0.062 | 0.370 |
| Male | 20 (100%) | 11 (84.6%) | 68 (78.2%) | 0.148 | 0.021 | 0.731 |
| Familial*,# | 5 (25.0%) | 12 (92.3%) | 33 (37.9%) | <0.001 | 0.313 | <0.001 |
| Familial history of sudden death*,# | 1 (5.0%) | 9 (69.2%) | 13 (14.9%) | <0.001 | 0.460 | <0.001 |
| NYHA functional class ≥3† | 5/19 (26.3%) | 7/12 (58.3%) | 53/85 (62.4%) | 0.130 | 0.005 | 0.763 |
| B-type natriuretic peptide (pg/ml) | 261 (87–870) | 278 (56–549) | 358 (112–1378) | 0.984 | 0.249 | 0.391 |
| Cardiac catheterization | 19 (95.0%) | 13 (100%) | 85 (97.7%) | 1.000 | 0.343 | 1.000 |
| Endomyocardial biopsy (n = 96) | ||||||
| Inflammation | 1/15 (6.7%) | 3/10 (30.0%) | 13/71 (18.3%) | 0.267 | 0.447 | 0.405 |
| Fibrosis | 12/15 (80%) | 10/10 (100%) | 64/71 (90.1%) | 0.250 | 0.369 | 0.588 |
| Echocardiography (n = 113) | ||||||
| LVEF (%) | 25.7 ± 8.9 | 34.3 ± 11.8 | 30.2 ± 13.1 | 0.059 | 0.220 | 0.196 |
| LVEDD (mm) | 65.8 ± 8.9 | 60.3 ± 8.4 | 67.1 ± 12.1 | 0.088 | 0.791 | 0.037 |
| LVESD (mm) | 58.9 ± 10.7 | 49.8 ± 10.7 | 58.8 ± 14.6 | 0.023 | 0.865 | 0.022 |
| IVST (mm) | 7.4 ± 2.0 | 7.5 ± 2.8 | 8.0 ± 2.1 | 0.750 | 0.403 | 0.350 |
| PWT (mm) | 8.0 ± 2.1 | 7.5 ± 2.7 | 7.9 ± 2.5 | 0.495 | 0.861 | 0.571 |
| LV mass (g) | 214.5 ± 69.1 | 176.2 ± 69.4 | 231.9 ± 94.6 | 0.101 | 0.599 | 0.053 |
| LAD (mm) | 43.4 ± 7.7 | 44.1 ± 13.2 | 44.7 ± 9.6 | 0.914 | 0.639 | 0.631 |
| Restrictive mitral pattern (%) | 4/11 (36.4%) | 1/7 (14.3%) | 25/56 (44.6%) | 0.596 | 0.745 | 0.224 |
| E/e’ | 12.4 ± 10.2 | 14.6 ± 12.1 | 14.9 ± 10.0 | 1.000 | 0.149 | 0.861 |
| Mitral regurgitation ≥ moderate | 7/18 (38.9%) | 3/11 (27.3%) | 27/79 (34.2%) | 0.694 | 0.786 | 0.746 |
| Left ventricular reverse remodeling* | 9/11 (81.8%) | 0/7 (0%) | 11/27 (40.7%) | 0.002 | 0.033 | 0.069 |
| Cardiopulmonary exercise testing (n = 42) | ||||||
| Rest exercise heart rate (beats/min) | 78 ± 11 | 72 ± 13.5 | 80 ± 16 | 1.000 | 0.584 | 0.441 |
| Peak exercise heart rate (beats/min) | 135 ± 24 | 106 ± 35 | 125 ± 29 | 0.179 | 0.497 | 0.180 |
| Rest exercise systolic blood pressure (mmHg) | 96 ± 15 | 92 ± 14 | 94 ± 19 | 0.831 | 0.258 | 1.000 |
| Peak exercise systolic blood pressure (mmHg) | 140 ± 23 | 123 ± 38 | 127 ± 33 | 0.479 | 0.156 | 0.702 |
| Peak VO2 (mL/kg/min) | 17.6 ± 4.7 | 15.5 ± 10.4 | 14.6 ± 6.6 | 0.321 | 0.045 | 0.977 |
| Follow-up data | ||||||
| Amiodarone# | 11 (55.0%) | 11 (84.6%) | 35 (40.2%) | 0.132 | 0.317 | 0.005 |
| Pacemaker implantation | 0 | 0 | 2 (2.3%) | NA | 1.000 | 1.000 |
| ICD implantation | 3 (15.0%) | 1 (7.7%) | 10 (11.5%) | 1.000 | 0.706 | 1.000 |
| CRT-D implantation# | 9 (45.0%) | 8 (61.5%) | 19 (21.8%) | 0.481 | 0.048 | 0.006 |
| ICD or CRT-D implantation | 12 (60.0%) | 9 (69.2%) | 29 (33.3%) | 0.719 | 0.040 | 0.028 |
| Any device | 12 (60.0%) | 9 (69.2%) | 33 (37.9%) | 0.719 | 0.083 | 0.040 |
| AF | 9 (45.0%) | 7 (53.8%) | 20 (23.0%) | 0.728 | 0.055 | 0.039 |
| Non-sustained VT# | 11 (55.0%) | 12 (92.3%) | 36 (41.4%) | 0.050 | 0.322 | <0.001 |
| Sustained VT | 4 (20.0%) | 7 (53.8%) | 19 (21.8%) | 0.065 | 1.000 | 0.036 |
| VF, CPR | 2 (10.0%) | 2 (15.4%) | 13 (14.9%) | 1.000 | 0.732 | 1.000 |
| Heart transplantation | 1 (5.0%) | 5 (38.5%) | 16 (18.4%) | 0.025 | 0.187 | 0.139 |
| Mortality | 1 (5.0%) | 3 (23.1%) | 7 (8.0%) | 0.276 | 1.000 | 0.120 |
| Heart transplantation or Mortality* | 2 (10.0%) | 8 (61.5%) | 23 (26.4%) | 0.005 | 0.150 | 0.021 |
| Mean follow-up duration (years) | 8.6 ± 8.0 | 8.3 ± 5.0 | 8.8 ± 8.8 | 0.711 | 0.752 | 0.531 |
Values are n (%), the mean ± SD, or median (interquartile). Superscript letters represent significant differences compared with other groups (*TTN group versus LMNA group; †TTN group versus others group; #LMNA group versus others group). DCM, dilated cardiomyopathy; NYHA, New York Heart Association; LV, left ventricular; EF, ejection fraction; EDD, end-diastolic diameter; ESD, end-systolic diameter; LAD, left atrial dimension; ICD, implantable cardioverter defibrillator; VF, ventricular fibrillation; CRTD, cardiac resynchronization therapy defibrillator; AF, atrial fibrillation; VT, ventricular tachycardia; CPR, cardiopulmonary resuscitation; NA, not applicable.