Table 2.
Clinical characteristics and cardiac phenotype in 79 lamin A/C genotype-positive subjects at our centre divided into asymptomatic family members referred after genotyping as part of family screening and symptomatic patients referred as probands
| All LMNA subjects (n = 79) | Asymptomatic family members (n = 31) | Symptomatic patients (n = 48) | P-value | |
|---|---|---|---|---|
| Age (years) | 42 ± 16 | 31 ± 15 | 49 ± 12 | <0.001 |
| Female/male | 36/43 (46/54) | 16/15 (50/50) | 20/28 (43/57) | 0.51 |
| Atrial fibrillation | 48 (61) | 7 (23) | 41 (85) | <0.001 |
| Atrioventricular block | 51 (65) | 10 (32) | 41 (85) | <0.001 |
| Ventricular arrhythmias | 47 (60) | 12 (39) | 35 (73) | 0.001 |
| Non-sustained VT only | 33 (42) | 12 (39) | 21 (44) | 0.14 |
| Sustained ventricular arrhythmias | 14 (18) | 0 (0) | 14 (30) | 0.001 |
| ICD/CRT-Da | 26/23 (33/29) | 7/0 (23/0) | 19/23 (40/48) | <0.001 |
| Echocardiographic and CMR parameters at first clinical visit | ||||
| Ejection fraction (%) | 45 ± 13 | 54 ± 7 | 39 ± 12 | <0.001 |
| End diastolic diameter (mm) | 55 ± 8 | 50 ± 5 | 59 ± 7 | <0.001 |
| LGE on CMR (n=28) | 13 (46) | 6 (30) | 7 (88) | 0.01 |
| Outcome | ||||
| Heart transplantation | 15 (19) | 0 (0) | 15 (32) | <0.001 |
| LVAD | 1 (1) | 0 (0) | 1 (2) | 1.0 |
Data are given as n (%) or mean ± SD.
CMR, cardiac magnetic resonance; CRT-D, cardiac resynchronization therapy with ICD; ICD, implantable cardiac defibrillator; LMNA, lamin A/C gene; LGE, late gadolinium enhancement; LVAD, left ventricular assist device; VT, ventricular tachycardia.
a
Received implantable device during follow-up.