Table 2.
Baseline clinical characteristics of LMNA variant carriers at initial visit.
| Total n = 53 | Probands n = 21 (39.6%) | Relatives n = 32 (60.4%) | p | |
|---|---|---|---|---|
| Age (years) | 33.2 ± 12.4 | 39.6 ± 10.0 | 29.0 ± 12.2 | 0.002 |
| Men, n (%) | 31 (58.5%) | 14 (66.7%) | 17 (53.1%) | 0.328 |
| LMNA missense variants, n (%) | 13 (24.5%) | 8 (38.1%) | 5 (15.6%) | 0.063 |
| Symptoms | ||||
| Syncope, n (%) (n = 49) | 12 (24.5%) | 8 (42.1%) | 4 (13.3%) | 0.039 |
| Family history of SCD <60 years, n (%) (n = 50) | 25 (50%) | 8 (44.4%) | 17 (53.1%) | 0.556 |
| Heart failure, n (%) | 19 (35.9%) | 15 (71.4%) | 4 (12.5%) | <0.0001 |
| NYHA class ≥ 3, n (%) | 7 (13.2%) | 6 (28.6%) | 1 (3.1%) | 0.012 |
| Arrhythmias | ||||
| Atrial arrhythmias, n (%) (n = 52) | 19 (36.5%) | 13 (61.9%) | 6 (19.4%) | 0.002 |
| nsVT, n (%) (n = 50) | 30 (60%) | 19 (100%) | 11 (35.5%) | <0.0001 |
| SCA/sVT, n (%) (n = 50) | 9 (18.0%) | 7 (36.8%) | 2 (6.4%) | 0.018 |
| CCD | ||||
| LBBB, n (%) (n = 47) | 8 (17.0%) | 8 (50.0%) | 0 (0%) | <0.0001 |
| AV block (≥1), n (%) (n = 52) | 31 (59.6%) | 17 (85.0%) | 14 (43.7%) | 0.003 |
| Cardiomyopathies | ||||
| LVEF < 50%, n (%) | 19 (35.8%) | 15 (71.4%) | 4 (12.5%) | <0.0001 |
| LVEF (%) | 50.5 ± 16.2 | 36.9 ± 15.7 | 59.4 ± 8.9 | <0.0001 |
| LVE > 112%, n (%) | 28 (52.8%) | 18 (85.7%) | 10 (31.3%) | 0.0001 |
| LVEDD (mm) | 53.7 ± 8.7 | 59.1 ± 8.2 | 50.2 ± 7.2 | 0.0001 |
| Biomarkers | ||||
| CK (IU/l) (n = 46) | 162.5 (93–291) | 121 (83–253) | 178 (93–458) | 0.157 |
| elevated CK, n (%) (n = 46) | 13 (28.3%) | 2 (10.5%) | 11 (40.7%) | 0.025 |
| hs Troponin T (ng/L) (n = 42) | 13.6 (7.0–23.9) | 19.2 (13.4–28.9) | 11.9 (5.7–19.9) | 0.018 |
| elevated hs Troponin T, n (%) (n = 42) | 20 (47.6%) | 10 (66.7%) | 10 (37.0%) | 0.065 |
| NT-proBNP (pg/mL) (n = 42) | 161.0 (72.7–683.7) | 683.7 (224–1211) | 84.9 (52.4–183.0) | <0.001 |
| elevated NT-proBNP, n (%) (n = 42) | 23 (54.8%) | 14 (82.3%) | 9 (36.0%) | 0.003 |
| Comorbidities | ||||
| Coronary artery disease, n (%) | 2 (3.8%) | 1 (4.8%) | 1 (3.1%) | 1.000 |
| Hypertension, n (%) | 6 (11.3) | 1 (4.8%) | 5 (15.6%) | 0.384 |
| Implantable devices | ||||
| ICD in primary PPX, n (%) | 8 (15.1%) | 5 (23.8%) | 3 (9.4%) | 0.204 |
| ICD in secondary PPX, n (%) | 8 (15.1%) | 6 (28.6%) | 2 (6.3%) | 0.047 |
| ICD/CRT-D implantation, n (%) | 16 (30.2%) | 11 (52.4%) | 5 (15.6%) | 0.004 |
| Medication | ||||
| β-Blocker, n (%) | 25 (47.2%) | 16 (76.2%) | 9 (28.1%) | <0.001 |
| ACE-I or ARB, n (%) | 21 (39.6%) | 17 (81.0%) | 4 (12.5%) | <0.0001 |
| MRA, n (%) | 6 (11.3%) | 6 (28.6%) | 0 (0%) | 0.002 |
Legend: Number of subjects is expressed as n (%). Continuous variables are shown as mean ± SD or median and quartiles (Q1:25th–Q2:75th percentiles). ACE-I: angiotensin converting enzyme inhibitor; ARB: angiotensin receptor blocker; AV block: atrioventricular block; CCD: cardiac conduction defect; CK: creatine phoshokinase; CRT-D: cardiac resynchronization therapy defibrillator; hs: high sensitive; ICD: implantable cardioverter defibrillator; LBBB: left bundle branch block; LVE: left ventricular enlargement; LVEDD: left ventricular end-diastolic dimension; LVEF: left ventricular ejection fraction; MRA: mineralocorticoid receptor antagonist; nsVT: non-sustained ventricular tachycardia; NT-proBNP: N-terminal pro-brain natriuretic peptide; NYHA class: New York Heart Association functional class; PPX: prophylaxis; SCA: sudden cardiac arrest; SCD: sudden cardiac death; sVT: sustained ventricular tachycardia.