Table 1. Common cardiomyopathy genes*.
Disease | Yield of Genetic Testing | Common Disease Genes (Class) |
---|---|---|
Hypertrophic Cardiomyopathy | ∼ 60 % | MYBPC3 (sarcomere) MYH7 (sarcomere) TNNT2 (sarcomere) TPM1 (sarcomere) |
Dilated cardiomyopathy | ∼ 35 % | TTN (sarcomere) MYH7 (sarcomere) LMNA (nuclear lamina) TNNT2 (sarcomere) RBM20 (splicesome) |
Arrythmogenic (right) ventricular cardiomyopathy | ∼ 50 % | PKP2 (desmosome) DSG2 (desmosome) DSP (desmosome) |
Genes selected based upon frequency and data supporting their role in disease pathogenesis. Not included are genetic causes of phenocopy (e.g. Fabry and left ventricular hypertrophy)