Table 1.
Clinical characteristics of people with DCM, comparison between people with disease-causing versus variants of unknown significance and negative findings in genetic testing, and comparison between familial and sporadic cases.
| Variable | All n = 122 | Disease-Causing Findings n = 62 | Negative & VUS n = 60 |
p Value | Familial n = 64 |
Sporadic n = 58 |
p Value |
|---|---|---|---|---|---|---|---|
| Gender male n (%) | 79 (66.6%) | 41 (66.6%) | 39 (65.5%) | 0.524 | 35 (54.6%) | 45 (77.6%) | 0.006 |
| Age, years (mean ± SD) | 45.8 ± 12.8 | 44.9 ± 13.1 | 46.8 ± 12.4 | 0.415 | 43.5 ± 12.0 | 48.3 ± 13.2 | 0.039 |
| Age at diagnosis (mean ± SD) | 41.4 ± 12.3 | 40.2 ± 12.5 | 42.7 ± 12.1 | 0.277 | 38.7 ± 11.4 | 44.4 ± 12.8 | 0.011 |
| Presentation reason n (%) | |||||||
| Cardiac symptoms | 101 (82.3%) | 48 (80.0%) | 53 (88.3%) | 0.191 | 48 (75%) | 53 (91.4%) | 0.011 |
| Sudden cardiac death episode | 3 (2.4%) | 2 (3.2%) | 1 (1.7%) | 0.512 | 1 (1.5%) | 2 (3.4%) | 0.463 |
| Incidental discovery | 8(6.5%) | 3 (4.8%) | 5(8.3%) | 0.389 | 4 (6.2%) | 4 (6.9%) | 0.011 |
| Family screening | 10 (8.1%) | 8 (12.9%) | 2(3.3%) | 0.122 | 10 (15.6%) | 0 | 0.012 |
| Heart failure features | |||||||
| LVEF (mean ± SD) | 35.3 ± 11.1 | 36.2 ± 11.7 | 34.3 ± 10.4 | 0.343 | 36.6 ± 10.9 | 33.8 ± 11.2 | 0.168 |
| LVEF ≤ 35% n (%) | 59 (48.3%) | 26 (41.9%) | 33 (55%) | 0.103 | 28 (43.7%) | 31 (53.4%) | 0.187 |
| NTproBNP (pg/mL) n = 63 | 3357.1 ± 442.4 | 3967.09 ± 4971.13 | 2642.03 ± 3649.22 | 0.062 | 3053.86 ± 4029.21 | 3653.86 ± 4853.17 | 0.126 |
| BNP (pg/mL) n = 39 | 435.6 ± 744.7 | 662.9 ± 974.0 | 219.7 ± 331.1 | 0.073 | 275.2 ± 554.7 | 722.0 ± 956.6 | 0.072 |
| Complications n (%) | |||||||
| Ventricular arrhythmias | 35 (28.6%) | 20 (32.2%) | 15 (25%) | 0.407 | 17 (26.5%) | 20 (34.5%) | 0.204 |
| Atrial fibrillation | 23 (18.8%) | 16 (25.8%) | 7 (11.6%) | 0.041 | 12 (18.7%) | 11 (18.9%) | 0.599 |
| Heart conduction disorder | 41 (33.3%) | 17 (27.4%) | 24 (40%) | 0.159 | 19 (29.7%) | 22 (37.9%) | 0.175 |
| Fibrosis on CMR | 54/73 (73.9%) | 31/41 (75.6%) | 23/32 (71.8%) | 0.461 | 30/38 (78.9%) | 24/35 (80.6%) | 0.229 |
| Heart transplantation | 1 (0.8%) | 1 (1.6%) | 0 | 0.529 | 1 (1.6%) | 0 | 0.529 |
| Deceased | 5 (4.1%) | 3 (4.8%) | 2 (3.3%) | 0.508 | 4 (6.2%) | 1 (1.7%) | 0.215 |
| Devices | |||||||
| Pacemaker n (%) | 6 (4.9%) | 3 (4.8%) | 3 (5%) | 0.644 | 3 (4.6%) | 3 (5.2%) | 0.612 |
| Any ICD (ICD + CRT-D) n (%) | 36 (29.3%) | 22 (35.4%) | 14 (23.3%) | 0.124 | 21 (32.8%) | 15 (25.8%) | 0.352 |
| CRTP n (%) | 6 (4.9%) | 2 (3.2%) | 4 (6.6%) | 0.324 | 1 (1.6%) | 5 (86.2%) | 0.083 |
| Age at ICD implant n = 35 (mean ± SD) | 40.97 ± 13.58 | 39.29 ± 13.53 | 43.50 ± 13.74 | 0.379 | 39.40 ± 13.41 | 43.07 ± 13.98 | 0.441 |
| Age at CRT implant n = 14 (mean ± SD) | 49.43 ± 13.09 | 50.20 ± 6.79 | 49.00 ± 15.96 | 0.877 | 47.75 ± 19.19 | 50.10 ± 11.09 | 0.830 |
Legend: number (n), Left Ventricle Ejection fraction (LVEF); implantable cardioverter-defibrillators (ICD); Cardiac Resynchronization Therapy Devices (CRTD); cardiac resynchronization therapy with pacemaker (CRTP); MRI magnetic resonance imaging; and variants of unknown significance (VUS).