Table 2.
Observed phenotypes associated with mutations in arrhythmogenic cardiomyopathy-related genes
| Gene | Predominant RV disease | Biventricular disease | Predominant LV disease | Other characteristics | Ref. |
|---|---|---|---|---|---|
| JUP | + | + | − | Cardiocutaneous syndrome | 4 |
| DSP | − | + | + | Cardiocutaneous syndrome | 25 |
| PKP2 | + | + | − | 6,26 | |
| DSG2 | + | + | + | 8,26 | |
| DSC2 | + | + | − | 9,26 | |
| TGFB3 | + | Unknown | Unknown | 27 | |
| TMEM43 | + | + | − | 28 | |
| TTN | + | + | + | 19,29 | |
| DES | − | + | + | 10 | |
| Lamin A/C | − | + | + | Conduction disease | 11 |
| PLN | − | + | + | 16,26 | |
| CTNNA3 | + | + | − | 14 | |
| CDH2 | + | + | − | 13 | |
| SCN5A | − | + | + | Electrical > structural disease | 1 2,29 |
| FLNC | − | + | + | 15 | |
| RBM20 | Unknown | Unknown | + | 30 | |
| BAG3 | Unknown | Unknown | + | 31 |
A literature review identified the spectrum of phenotypes in relation to ventricular disease in patients with carrying mutations in AC-related genes. Presence of disease is marked with ‘+’ and absence with ‘−’.
BAG3, Bcl2-associated athanogene 3; CDH2, cadherin 2; CTTNA3, catenin alpha 3; DES, desmin; DSC2, desmocolin 2; DSG2, desmoglein 2; DSP, desmoplakin; FLNC, filamin C; JUP, plakoglobin; LV, left ventricular; PKP2, plakophillin 2; PLN, phospholamban; RBM20, RNA binding motif protein 20; RV, right ventricular; SCN5A, sodium voltage-gated channel alpha subunit 5; TGFB3, transforming growth factor beta 3; TMEM43, transmembrane protein 43; TTN, titin.