Table 4.
Clinical Characteristics of LMNA variant carriers at last follow-up.
| Total n = 53 | Non-Missense n = 40 | Missense n = 13 | p | |
|---|---|---|---|---|
| Age (years) | 38.6 ± 12.5 | 39.6 ± 13.3 | 35.5 ± 9.6 | 0.318 |
| Men, n (%) | 31 (58.5%) | 24 (60.0%) | 7 (53.8%) | 0.696 |
| Probands, n (%) | 21 (39.6%) | 13 (32.5%) | 8 (61.5%) | 0.063 |
| Symptoms | ||||
| Heart failure, n (%) | 27 (50.9%) | 18 (45.0%) | 9 (69.2%) | 0.129 |
| NYHA class ≥ 3, n (%) | 17 (32.1%) | 11 (27.5%) | 6 (46.2%) | 0.306 |
| Arrhythmias | ||||
| Atrial arrhythmias, n (%) (n = 52) | 24 (46.2%) | 20 (51.3%) | 4 (30.8%) | 0.199 |
| nsVT, n (%) (n = 51) | 35 (68.6%) | 27 (69.2%) | 8 (66.7%) | 1.000 |
| CCD | ||||
| LBBB, n (%) (n = 39) | 10 (25.6%) | 4 (14.3%) | 6 (54.5%) | 0.017 |
| AV block (≥1), n (%) | 36 (67.9%) | 29 (72.5%) | 7 (53.8%) | 0.306 |
| Cardiomyopathies | ||||
| LVEF < 50%, n (%) | 22 (41.5%) | 13 (32.5%) | 9 (69.2%) | 0.019 |
| LVEF (%) | 46.9 ± 17.4 | 51.9 ± 15.3 | 38.0 ± 17.9 | 0.012 |
| LVE > 112%, n (%) | 29 (54.7%) | 19 (47.5%) | 10 (76.9%) | 0.064 |
| LVEDD (mm) | 54.8 ± 9.1 | 51.0 ± 10.5 | 60.1 ± 12.2 | 0.016 |
| Biomarkers | ||||
| hs Troponin T (ng/L) (n = 42) | 16.1 (9.9–29.8) | 16.2 (9.9–31.5) | 13.9 (10.4–17.1) | 0.520 |
| elevated hs Troponin T, n (%) (n = 42) | 24 (57.1%) | 20 (60.6%) | 4 (44.4%) | 0.462 |
| NT-proBNP (pg/mL) (n = 41) | 397.2 (85–1037) | 359.3 (84–1012) | 722.0 (86–2245) | 0.324 |
| elevated NT-proBNP, n (%) (n = 41) | 26 (63.4%) | 18 (60%) | 8 (72.7%) | 0.716 |
| Implantable devices | ||||
| ICD in primary PPX, n (%) | 26 (49.1%) | 20 (50.0%) | 6 (46.2%) | 0.810 |
| ICD in secondary PPX, n (%) | 8 (15.1%) | 5 (12.5%) | 3 (23.1%) | 0.389 |
| ICD/CRT-D implantation, n (%) | 34 (64.2%) | 25 (62.5%) | 9 (69.2%) | 0.749 |
| Events during follow-up | ||||
| Malignant ventricular arrhythmia, n (%) | 13 (24.5%) | 9 (22.5%) | 4 (30.8%) | 0.712 |
| Appropriate ICD shock, n (%) | 11 (31.4%) | 7 (26.9%) | 4 (44.4%) | 0.416 |
| RF ablation for VA, n (%) | 7 (13.2%) | 4 (10%) | 3 (23.1%) | 0.343 |
| Cardiopulmonary resuscitation, n (%) | 1 (1.9%) | 1 (2.5%) | 0 (0%) | 1.000 |
| Sudden cardiac death, n (%) | 1 (1.9%) | 1 (2.5%) | 0 (0%) | 1.000 |
| End-stage heart failure, n (%) | 14 (26.4%) | 9 (22.5%) | 5 (38.5%) | 0.292 |
| Heart transplantation, n (%) | 11 (20.8%) | 8 (20.0%) | 3 (23.1%) | 1.000 |
| HF death, n (%) | 3 (5.7%) | 1 (2.5%) | 2 (15.4%) | 0.145 |
Legend: Number of subjects is expressed as n (%). Continuous variables are shown as mean ± SD or median and quartiles (Q1:25th–Q2:75th percentiles). RF ablation: radiofrequency ablation; VA: ventricular arrhythmia.