Clinical, electrocardiographic, echocardiographic and histological characteristics of patients with and without desmosomal protein gene mutations
| Variable | Desmosomal mutations group (n=12) | Non-carrier group (n=72) | p Value |
| Mean age (years) | 44.8±13.1 | 48.2±13.3 | 0.42 |
| Sex, n (%) | 0.87 | ||
| Male | 9 (75%) | 59 (82%) | |
| Female | 3 (25%) | 13 (18%) | |
| NYHA class, n (%) | 0.25 | ||
| I | 0 (0%) | 1 (1%) | |
| II | 5 (42%) | 12 (17%) | |
| III | 4 (33%) | 36 (50%) | |
| IV | 3 (23%) | 23 (32%) | |
| Family history | |||
| Dilated cardiomyopathy, n (%) | 5 (42%) | 11 (15%) | 0.08 |
| Sudden cardiac death, n (%) | 1 (8%) | 6 (8%) | 1 |
| History of sustained VT, n (%) | 0 (0%) | 5 (7%) | 1 |
| Transplant | |||
| Urgent HT, n (%) | 7 (58%) | 25 (35%) | 0.22 |
| Time on waiting list (days) | 128±183 | 101±181 | 0.64 |
| Time since first evaluation (days) | 641±1066 | 309±411 | 0.31 |
| ECG | |||
| Sinus rhythm, n (%) | 7 (58%) | 53 (74%) | 0.46 |
| Atrial fibrillation, n (%) | 5 (42%) | 19 (26%) | 0.46 |
| Mean QRS duration, (ms)* | 100±30 | 117±35 | 0.17 |
| Left bundle branch block, n (%) | 2 (17%) | 24 (33%) | 0.41 |
| Right bundle branch block, n (%) | 0 (0%) | 1 (1%) | 1 |
| Non-specific bundle branch block, n (%) | 0 (0%) | 9 (13%) | 0.35 |
| Paced rhythm, n (%) | 3 (25%) | 10 (14%) | 0.58 |
| Terminal activation QRS V1–V3 >55 ms, n (%)† | 2 (28%) | 4 (11%) | 0.55 |
| T wave inversion, n (%)† | |||
| V1 | 2 (29%) | 2 (6%) | 0.24 |
| V2 | 1 (14%) | 1 (3%) | 0.75 |
| V3 | 0 (0%) | 3 (9%) | 1 |
| V4 | 1 (14%) | 3 (9%) | 1 |
| V5 | 5 (71%) | 17 (49%) | 0.49 |
| V6 | 6 (86%) | 20 (57%) | 0.32 |
| I | 2 (29%) | 8 (23%) | 1 |
| aVL | 3 (43%) | 12 (34%) | 1 |
| II | 2 (29%) | 7 (20%) | 1 |
| III | 1 (14%) | 7 (20%) | 1 |
| aVF | 1 (14%) | 7 (20%) | 1 |
| Arrhythmia during exercise test‡ | |||
| Ventricular ectopy on exercise, n (%) | 1 (17%) | 10 (21%) | 1 |
| Ventricular ectopy during recovery, n (%) | 1 (17%) | 16 (34%) | 0.69 |
| 24-h ECG monitoring§ | |||
| Non-sustained VT, n (%) | 3 (50%) | 25 (54%) | 1 |
| Echocardiography | |||
| LVedD (mm) | 69±11 | 71±11 | 0.70 |
| Predicted LVedD (%) | 150±24 | 151±23 | 0.46 |
| LVEF (%) | 27±7 | 25±8 | 0.46 |
| LV wall motion abnormalities, n (%) | 1 (8%) | 5 (7%) | 1 |
| RV dilation, n (%) | 4 (33%) | 31 (44%) | 0.53 |
| RV systolic impairment, n (%) | 6 (50%) | 21 (29%) | 0.27 |
| RV wall motion abnormalities | 0 (0%) | 3 (4%) | 1 |
| RVEF on isotopic ventriculography (%)¶ | 29±10 | 25±11 | 0.48 |
| Patients with RVEF by isotopic ventriculography < LVEF by echocardiography, n (%)¶ | 2 (33%) | 15 (44%) | 0.96 |
| Histopathology | |||
| LV fatty infiltration, n (%) | 1 (8%) | 6 (8%) | 1 |
| RV fatty infiltration, n (%) | 4 (33%) | 28 (39%) | 0.96 |
| LV fibrotic infiltration, n (%) | 10 (83%) | 57 (79%) | 0.94 |
| RV fibrotic infiltration, n (%) | 6 (50%) | 36 (50%) | 1 |
| LV fibrotic or fibrofatty infiltration >25%, n (%) | 0 (0%) | 12 (17%) | 0.28 |
| RV fibrotic or fibrofatty infiltration >25%, n (%) | 2 (16%) | 7 (10%) | 0.83 |
| RV fibrotic or fibrofatty infiltration >50%, n (%) | 0 (0%) | 5 (7%) | 1 |
↵* Patients with paced ventricular rhythm excluded.
↵† Patients with bundle branch block or paced ventricular rhythm excluded.
↵‡ Six patients (50%) from the mutated group and 47 (65%) from the non-carrier group underwent exercise test.
↵§ Six patients (50%) from the mutated group and 46 (64%) from the non-carrier group underwent 24h ECG monitoring.
↵¶ Six patients (50%) from the mutated group and 34 (49%) from the non-carrier group underwent RV isotopic ventriculography.