Table 3:
Genes Commonly Implicated in Genetic Dilated Cardiomyopathy
| Pathogenic Variant with Moderate-Strong Association with DCM | Gene | Approximate prevalence in DCM | Other phenotypes | Association with ACM |
|---|---|---|---|---|
| Titin | TTN | 12–25% | HCM ( ) |
In small proportion of truncating variants |
| Lamin A/C | LMNA | 4–8% |
|
High |
| Myosin heavy chain 7 | MYH7 | 3–4% | HCM ( ) |
Present |
| Troponin T2 | TNNT2 | 2–4% | HCM | Present |
| Filamin C | FLNC | 2–4% ** | HCM, RCM, ACM-RV, 
|
High |
| RNA binding motif 20 | RBM20 | 2% | High | |
| Type V voltage-gated cardiac sodium channel | SCN5A | 2–3% | Brugada syndrome | High for some variants |
| Desmoplakin | DSP | 2% | ACM-RV, 
|
High |
| Phospholamban | PLN | < 1% * | ACM-RV | High |
| Bcl-associated athanogene 3 | BAG-3 | 0.1–3%** |
|
Present** |
| Desmin | DES | < 1% | More often RCM 
|
High |
|
Other Sarcomeric Proteins, e.g.: Myosin heavy chain 6 Tropomyosin Troponin C1 Myosin binding protein C3 |
MYH6
TPM1 TNNC1 MYBPC3 |
Variable representation in DCM populations | HCM, 
|
Occasional variants implicated |
ACM = arrhythmogenic cardiomyopathy, characterized by early and severe ventricular arrhythmias
ACM-RV = arrhythmogenic cardiomyopathy with dominant RV involvement
DCM = dilated cardiomyopathy phenotype, HCM = hypertrophic cardiomyopathy, RCM = restrictive cardiomyopathy
= associated with skeletal myopathy
Associations between genotype and arrhythmia phenotypes vary due to relatively small series, referral center bias, and geographic heterogeneity.
*
Higher prevalence of a founder mutation in Netherlands/Germany