Table 5. Causes, worsening factors, and phenotypes according to gene mutation in cardiomyopathy.
| Conditions | Cause | Worsening factor | Phenotype | |
|---|---|---|---|---|
| Gene mutation | ||||
| LMNA | × | × | DCM | |
| TTN* | × | DCM, (HCM) | ||
| RBM20 | × | DCM | ||
| MYH6* | × | DCM | ||
| MYH7* | × | DCM, HCM | ||
| MYPC | × | DCM, HCM | ||
| TNNT* | × | DCM, HCM | ||
| PLN | × | DCM, HCM, AC | ||
| DSP | × | × | AC, DCM, myocarditis | |
| TNNI3* | × | DCM | ||
| ABCC9* | × | DCM | ||
| TAZ* | × | DCM | ||
| SCN5a | × | × | AC, (DCM) | |
| Tropomyosin-1 | × | DCM | ||
| HFE, C282Y (hemochromatosis) | × | HCM, DCM | ||
| Galactosidase-A (fabry) | × | HCM | ||
| Neuromuscular disease | ||||
| Duchenne/becker muscular dystrophy, myotonic dystrophy syndrome | × | DCM | ||
| Mitochondria X-linked variant | × | DCM | ||
LMNA = lamin A/C; DCM = dilated cardiomyopathy; TTN = titin; HCM = hypertrophic cardiomyopathy; RBM20 = ribonucleic acid binding motif 20; MYH = myosin heavy chain; MYPC = myosin-binding protein C; TNNT = troponin-T; PLN = phospholamban; AC = arrhythmogenic cardiomyopathy; DSP = desmoplakin; TNNI = troponin I; SCN5a = sodium channel alpha unit 5; ABCC = ATP-binding cassette subfamily C; TAZ = tafazzin.
*Identified in a Korean study about gene mutation in patients with dilated cardiomyopathy.