Table 1.
ARVD-associated mutated genes with or without myopathy (genes are listed according to frequency in ARVD patients).
| GENE | PROTEIN | CM | OM | NRC | REFERENCE |
|---|---|---|---|---|---|
| PKP2 | Plakophilin-2 | ARVD9 | Brugada syndrome | 338 al§ | 31, 62, 63 |
| TMEM43 | TMEM43 | ARVD5 | Myopathy# | 295 | 58, 64 |
| DSG2 | Desmoglein-2 | ARVD10 | Left ventricle | 100 al§ | 31, 65, 66 |
| DSP | Desmoplakin | ARVD8 | Carvajal syndrome | 83 al§ | 31, 67 |
| TGFB3 | Growth factor | ARVD1 | Loeys Dietz syndrome | 38 | 68 |
| RYR2 | Ryanodine-2 | ARVD2 | Statin myopathy | 25 | 47 |
| DSC2 | Desmocollin-2 | ARVD11 | None | 24 al§ | 31, 69 |
| DES | Desmin | ARVD& | Myopathy | 16 | 35, 39, 50 |
| TTN | Titin | ARVD | Myopathy* | 11 | 34 |
| JUP | Plakoglobin | ARVD12 | None | 10 al§ | 31, 70 |
| LMNA | Lamin A/C | ARVD | Myopathy | 5 | 71 |
| ZASP | Cypher | ARVD | Myopathy | 3 | 22 |
| CTNNA3 | alphaT-catenin | ARVD | None | 2 | 72 |
| DMPK | Proteinkinase | ARVD& | Myotonic dystrophy | 1 | 42 |
| SCN5 A | Sodium-channel | ARVD | Brugada syndrome | 1 | 73 |
| PLN | Phospholamban | ARVD | Myopathy | only in mice | 24 |
| STRN | Striatin | ARVD | None | only in dogs | 25 |
Notes:
*
Limb girdle muscular dystrophy.
#
Emery–Dreifuss muscular dystrophy.
&
ARVD and myopathy in the same patient; genes responsible for ARVD3, ARVD4, ARVD6, and ARVD7 have been mapped but were not yet identified.
§Data are taken from Table 4.
Abbrevations: al, at least; ARVD, arrhythmogenic right ventricular dysplasia; CM, cardiac manifestation; OM, other manifestations; DES, desmin; DSC2, desmocollin-2; NRC, number of so far reported cases; PKP2, plakophilin-2; TMEM43, transmembrane protein-43 (inner nuclear membrane protein).