Table 1.
Clinical characteristics of patients with ARVC/D
| Patient no. | Gender | Age at scintigraphy (years) | Symptoms at diagnosis | Age at diagnosis (years) | Mutation | Medication | ARVC/D Task Force criteria | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family history | ECG depolarization/conduction | ECG repolarization | Arrhythmias | RV dysfunction | ||||||||||||
| Disease confirmed at necropsy (major) | Sudden cardiac death (minor)a | ARVC/D (minor) | Epsilon wave (major) | Late potential (minor) | Negative T wave (minor) | LBBB-VT (minor) | >1,000 PVC/24 h (minor) | Severe (major) | Mild (minor) | |||||||
| 1 | M | 24 | Syncope | 21 | PKP2: | Sotalol | − | + | + | − | + | + | + | − | − | + |
| C796Rb | ||||||||||||||||
| 2 | F | 55 | VT | 49 | No | – | − | + | + | − | NA | + | + | − | − | + |
| 3 | F | 48 | VT | 38 | No | Sotalol | − | − | − | − | NA | + | + | NA | − | + |
| 4 | M | 33 | VT | 30 | No | Sotalol | − | − | + | − | − | + | + | NA | − | + |
| 5 | M | 19 | VT | 16 | No | Sotalol | − | − | − | − | NA | + | - | NA | − | + |
| 6 | M | 41 | VT | 27 | DSG2: | – | − | − | − | − | + | + | + | NA | + | − |
| T335Ac | ||||||||||||||||
LBBB left bundle branch block, NA not analysed, PVC premature ventricular complex.
aDeath before 35 years of age due to suspected ARVC/D.
bC796R missense mutation in plakophilin-2.
cT335A missense mutation in desmoglein-2.