Cardiomyopathies, genetic causes, and cellular pathology
| Disease | Mutated gene | Pathology |
| Hypertrophic cardiomyopathy | Myosin binding protein C | Increased heart mass |
| β-Myosin heavy chain | Left ventricular wall thickening | |
| α-Myosin heavy chain | Increased cardiomyocyte size | |
| α-Tropomyosin | Myofibrillar disarray | |
| Troponin T | Decreased volume of left ventricular chamber | |
| α-Cardiac actin | Interstitial fibrosis | |
| Troponin I | Enlarged nuclei | |
| Titin | Ventricular wall stiffness | |
| Myosin light chains | Inflammation | |
| Troponin C | ||
| Vinculin | ||
| Muscle LIM protein | ||
| Telothonin | ||
| Dilated cardiomyopathy | β-Myosin heavy chain | Ventricular wall thinning |
| Desmin | Ventricular chamber enlargement | |
| N-cadherin | Cardiomyocyte apoptosis | |
| α-Cardiac actin | Interstitial fibrosis | |
| Skeletal muscle myopathies | Enlarged nuclei | |
| α-Tropomyosin 1 | Ventricular wall stiffness | |
| Muscle LIM protein δ-sarcoglycan | Inflammation | |
| Lamin A/C | ||
| TAZ (G4.5) | ||
| Titin | ||
| Phospholamban | ||
| Vinculin | ||
| Troponin I | ||
| Troponin T2 | ||
| SCN5A | ||
| Presenilin 1 & 2 | ||
| Troponin C | ||
| α-Cardiac actinin | ||
| Plakoglobin | ||
| Restrictive cardiomyopathy | Troponin I | Ventricular wall stiffness |
| Desmin | Apoptosis | |
| α-Cardiac actin | Fibrosis | |
| Skeletal muscle myopathies | Myofibrillar disarray | |
| Troponin T | ||
| β-Myosin heavy chain | ||
| Left ventricular noncompaction | TAZ (G4.5) | Trabeculated ventricular walls |
| α-Dystrobrevin | Noncompaction of ventricular endocardium | |
| FKBP12 | Necrotic myocytes | |
| β-Myosin heavy chain | Fibrosis | |
| α-Cardiac actin | Myofibrillar disarray | |
| Cardiac troponin | ||
| Arrhythmogenic right ventricular cardiomyopathy | Plakophilin-2 | Right ventricular dilation |
| Junctional plakoglobin | Right ventricular fibrosis | |
| Desmocollin-2 | Fibrofatty infiltration | |
| Desmoglein-2 | Apoptosis | |
| Desmoplakin | ||
| Muscular dystrophy–associated cardiomyopathy | Dystrophin | Left ventricular hypertrophy or dilation |
| Sarcoglycan | Fibrosis | |
| Dystroglycan | Apoptosis | |
| Dystrobrevin |
| Disease | Mutated gene | Pathology |
| Hypertrophic cardiomyopathy | Myosin binding protein C | Increased heart mass |
| β-Myosin heavy chain | Left ventricular wall thickening | |
| α-Myosin heavy chain | Increased cardiomyocyte size | |
| α-Tropomyosin | Myofibrillar disarray | |
| Troponin T | Decreased volume of left ventricular chamber | |
| α-Cardiac actin | Interstitial fibrosis | |
| Troponin I | Enlarged nuclei | |
| Titin | Ventricular wall stiffness | |
| Myosin light chains | Inflammation | |
| Troponin C | ||
| Vinculin | ||
| Muscle LIM protein | ||
| Telothonin | ||
| Dilated cardiomyopathy | β-Myosin heavy chain | Ventricular wall thinning |
| Desmin | Ventricular chamber enlargement | |
| N-cadherin | Cardiomyocyte apoptosis | |
| α-Cardiac actin | Interstitial fibrosis | |
| Skeletal muscle myopathies | Enlarged nuclei | |
| α-Tropomyosin 1 | Ventricular wall stiffness | |
| Muscle LIM protein δ-sarcoglycan | Inflammation | |
| Lamin A/C | ||
| TAZ (G4.5) | ||
| Titin | ||
| Phospholamban | ||
| Vinculin | ||
| Troponin I | ||
| Troponin T2 | ||
| SCN5A | ||
| Presenilin 1 & 2 | ||
| Troponin C | ||
| α-Cardiac actinin | ||
| Plakoglobin | ||
| Restrictive cardiomyopathy | Troponin I | Ventricular wall stiffness |
| Desmin | Apoptosis | |
| α-Cardiac actin | Fibrosis | |
| Skeletal muscle myopathies | Myofibrillar disarray | |
| Troponin T | ||
| β-Myosin heavy chain | ||
| Left ventricular noncompaction | TAZ (G4.5) | Trabeculated ventricular walls |
| α-Dystrobrevin | Noncompaction of ventricular endocardium | |
| FKBP12 | Necrotic myocytes | |
| β-Myosin heavy chain | Fibrosis | |
| α-Cardiac actin | Myofibrillar disarray | |
| Cardiac troponin | ||
| Arrhythmogenic right ventricular cardiomyopathy | Plakophilin-2 | Right ventricular dilation |
| Junctional plakoglobin | Right ventricular fibrosis | |
| Desmocollin-2 | Fibrofatty infiltration | |
| Desmoglein-2 | Apoptosis | |
| Desmoplakin | ||
| Muscular dystrophy–associated cardiomyopathy | Dystrophin | Left ventricular hypertrophy or dilation |
| Sarcoglycan | Fibrosis | |
| Dystroglycan | Apoptosis | |
| Dystrobrevin |
Bold: mutations that are common to multiple forms of cardiomyopathy.