Table 2.
Genetic findings in tested patients (n=47)
| Pathogenic | Likely pathogenic | VUS | Likely benign/benign | |
| 24 (52%) | 5 (10%) | 8 (17%) | 3 (6%) | |
| Single desmosome mutation | ||||
| DSP | 18 | 1 | 1 | – |
| DSG2 | – | – | 2 | – |
| Single non-desmosome mutation | ||||
| FLNC | 3 | – | – | – |
| RYR2 | – | – | 1 | – |
| DES | – | 1 | – | – |
| Double mutation | ||||
| DSP+FLNC | 2 (DSP) | – | 2 (FLNC) | – |
| DSP+TMEM43 | – | 1 (DSP) | 1 (TMEM43) | – |
| PKP2+TMEM43 | 1 (PKP2) | – | – | 1 (TMEM43) |
| SCN5A+ANK2 | – | 2 (SCN5A) | – | 2 (ANK2) |
ANK2, ankirin2; DES, desmin; DSG2, desmoglein 2; DSP, desmoplakin; FLNC, filamin C; PKP2, plakophillin; RYR2, ryanodine receptor 2; SCN5A, sodium voltage-gated channel alpha subunit 5; TMEM43, transmembrane protein 43; VUS, variant of unknown significance.