Table 1.
Summary table for the genetic background of arrhythmogenic cardiomyopathy and its correlation with different phenotypes of the disease.
| Gene | Encoded Protein | Chromosomal Locus | Mode of Transmission | Reference | Predominately Affected Ventricle | Notes |
|---|---|---|---|---|---|---|
| Desmosomal | ||||||
| JUP | Junction plakoglobin | 17q21.2 | AD/AR also reported | McKoy et al. [18] | RV, biventricular | AR form: Cardiocutaneous syndrome (Naxos) |
| DSP | Desmoplakin | 6p24.3 | AD/AR also reported | Norgett et al. [19] | LV, biventricular | AR form: Cardiocutaneous syndrome (Carvajal) |
| PKP2 | Plakophillin-2 | 12p11.21 | AD/AR also reported | Gerull et al. [20] | RV, biventricular | classic RV phenotype |
| DSG2 | Desmoglein-2 | 18q12.1 | AD/AR also reported | Awad et al. [21] | classic RV phenotype, biventricular | frequent LV involvement |
| DSC2 | Desmocollin-2 | 18q12.1 | AD/AR also reported | Syrris et al. [22] | RV, biventricular | AR Cardiocutaneous form |
| Non desmosomal | ||||||
| TMEM43 | Transmembrane protein 43 | 3p25.1 | AD | Merner et al. [23] | RV, biventricular | Newfoundland founder variant, SCD |
| LMNA | Lamin A/C | 1q22 | AD | Quarta et al. [24] | LV, biventricular | Overlapping syndrome (DCM, Lipodystrophies, Myopathies) |
| DES | Desmin | 2q35 | AD | Hedberg et al. [25] | LV, biventricular | Overlapping syndrome (DCM and HCM, early conduction disturbances) |
| CTNNA3 | Alpha T-catenin | 10q21.3 | AD | Van Hengel et al. [26] | RV, biventricular | Low penetrance |
| PLN | Phospholamban | 6q22.31 | AD | Van der Zwaag et al. [27] | LV, biventricular | Founder mutation in Netherlands. High SCD risk. |
| TGFB3 | Transforming grow factor beta 3 | 14q24.3 | AD | Beffagna et al. [28] | RV | |
| TTN | Titin | 2q31.2 | AD | Taylor et al. [29] | RV, LV, biventricular | Overlapping syndrome (early conduction disturbances, AF, DCM) |
| SCN5A | Sodium voltage-gated channel alpha subunit 5 | AD | Cerrone et al. [30] | LV, biventricular | Overlap syndrome (BrS, LQTS Type 3, AF) | |
| CDH2 | Cadherin C | AD | Mayosi et al. [31] | RV, biventricular | ||
AD = autosomal dominant; AF = atrial fibrillation; AR = autosomal recessive; BrS = Brugada syndrome; DCM = dilated cardiomyopathy; HCM = hypertrophic cardiomyopathy; LQTS = long QT Syndrome; LV = left ventricle; RV = right ventricle; SCD = sudden cardiac death.