Table 1.
Baseline clinical characteristics of the overall cohort of FLNC truncating mutations carriers and divided according to proband status.
| total n=85 |
probands n=38 (45%) |
non-probands n=47 (55%) |
p-value | |
|---|---|---|---|---|
| Age (years) | 42±15 | 40±14 | 44±16 | 0.163 |
| Male %(n.) | 53 (45) | 63 (24) | 45 (21) | 0.090 |
| Caucasian %(n.) | 99 (84) | 97 (37) | 100 (47) | 0.263 |
| Dimerization | 4 (3) | 3 (1) | 4 (2) | |
| Family history cardiomyopathy %(n.) | 81 (69) | 61 (23) | 100 (46) | <0.001 |
| Family history SCD %(n.) | 52 (44) | 34 (13) | 66 (31) | 0.004 |
| Unaffected | 11 (9) | 0 (0) | 19 (9) | |
| CPK (U/l) | 80 (55–121) | 75 (55–139) | 94 (50–119) | 0.713 |
| HR (bpm) | 72±21 | 73±21 | 71±21 | 0.567 |
| AF %(n.) | 4 (3) | 5 (2) | 2 (1) | 0.219 |
| LBBB %(n.) | 8 (7) | 8 (3) | 9 (4) | 0.871 |
| NYHA 3–4 %(n.) | 18 (15) | 22 (8) | 15 (7) | 0.424 |
| NYHA 1 %(n.) | 68 (57) | 62 (23) | 72 (34) | 0.321 |
| Negative anterior T waves %(n.) | 21 (18) | 39 (15) | 7 (3) | <0.001 |
| PVCs/24h | 3194±5443 | 4581±6913 | 1806±2994 | 0.108 |
| PVCs>1000/24h %(n.) | 45 (18) | 55 (11) | 35 (7) | 0.204 |
| Positive Late Potentials %(n.) | 8 (7) | 5 (2) | 11 (5) | 0.370 |
| NSVT %(n.) | 48 (28) | 61 (19) | 33 (9) | 0.034 |
| Echo LVEF (%)* | 43±15 | 33±14 | 51±12 | <0.001 |
| Echo LVEF <50 %(n.) | 64 (52) | 89 (33) | 43 (19) | <0.001 |
| Echo LVEF ≦35 %(n.) | 31 (25) | 56 (21) | 9 (4) | 0.046 |
| Echo LVEDD (mm) | 57±10 | 62±8 | 52±9 | <0.001 |
| Echo MWT (mm) | 9±2 | 10±1 | 9±2 | 0.446 |
| Echo LVH (%) | 11 | 6 | 14 | 0.270 |
| Echo RVFAC (%)* | 38±11 | 35±12 | 40±9 | 0.083 |
| Echo RVFAC<35 %(n.) | 34 (17) | 46 (11) | 23 (6) | 0.090 |
| Echo RV WMA %(n.) | 8 (4) | 16 (4) | 0 (0) | 0.031 |
| Echo MR %(n.) | 44 (33) | 58 (19) | 33 (14) | 0.036 |
| CMR LGE %(n.) ** | 53 (23) | 61 (8) | 56 (14) | 0.738 |
| Beta-blockers %(n.) | 64 (52) | 89 (31) | 46 (21) | <0.001 |
| ACEi/ARB/ARNI %(n.) | 57 (46) | 80 (28) | 39 (18) | <0.001 |
| ICD %(n.) | 14 (11) | 20 (7) | 9 (4) | 0.152 |
| ICD at follow-up %(n.) | 48 (39) | 57 (21) | 41 (18) | 0.155 |
ABD=active binding domain, SCD=sudden cardiac death, DCM=dilated cardiomyopathy, ARVC=arrhythmogenic right ventricular cardiomyopathy, ALVC=arrhythmogenic left-dominant cardiomyopathy, CPK=creatine phosphokinase, HR=heart rate, AF=atrial fibrillation, LBBB=left bundle branch block, NYHA=New York heart association, PVC=premature ventricular complex, NSVT=non-sustained ventricular tachycardia, LVEF=left ventricular ejection fraction, LVEDD=left ventricular end-diastolic volume, MWT=maximum wall thickness, LVH=left ventricular hypertrophy, RVFAC=right ventricle fractional area change, WMA=wall motion abnormalities, MR=mitral regurgitation, CMR=cardiac magnetic resonance imaging, LGE=late gadolinium enhancement, ACEi/ARB/ARNI=ACE-inhibitors/angiotensin receptor blockers/angiotensin receptor neprylisin inhibitors, ICD=implantable cardioverter defibrillator.
Values are reported as mean±standard deviation, median and interquartile range or percentage as appropriate.
missing data for LVEF=4 (5%), missing data for RVFAC=35 (41%).
among the 43 pts with available CMR.