Table 2. Clinical data of probands carrying putative pathogenic mutations.
| Patient |
Familial status | Sex | Age at diagnosis | Family history | TWI | Epsilon waves | SA-ECG | Arrhythmia | RV | LV dys |
TF criteria | Clinical status | Suspected gene |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| QT4286 | Proband | F | 17 | abs | V1-V5 (Maj) | abs | + (min) | > 500 PVC (min) | Maj | abs | 2Maj/ 1min |
Affected | EYA4 |
| QT7052 | Proband | F | 21 | abs0 | V1-V4 (Maj) | abs | abs | NSVT (min) | Maj | abs | 2Maj/ 1min |
Affected | RBM20 |
| 1–46767 | Proband | M | 34 | + (min) | 0 | abs | + (min) | NSVT (min) | Borderline | abs | 3min | Borderline | COX15 |
| QT4029 | Proband | M | 46 | abs | V1-V4 (Maj) | abs | + (min) | Sustained VT (Maj) | Maj | abs | 3Maj/ 1min |
Affected | PSEN1 |
M: male; F: female; Maj/min/abs: major/minor/absent criterion of the International 2010 ARVC Task Force; TF criteria: task force criteria; TWI: T wave inversion; SAECG: signal-average ECG; RVOT VT: ventricular tachycardia from right ventricular outflow tract; PVC: premature ventricular complex; RV: right ventricle; LV dys: left ventricle dysfunction; SCD: sudden-cardiac-death; NSVT: non-sustained VT; NA: non-available data.