Skip to main content

Table 1 Examples of common and rare cardiomyopathies [7]

From: Uncharted waters: rare and unclassified cardiomyopathies characterized on cardiac magnetic resonance imaging

  HCM (Figs. 1, 2, 3, 4) DCM (Figs. 5, 6, 7) ARVC RCM (Figs. 8, 9, 10) Unclassified (Figs. 11, 12)
Familial Familial, unknown gene Familial, unknown gene Familial, unknown gene Familial, unknown gene Familial, unknown gene
  Sarcomeric protein mutations Sarcomeric protein mutations (see HCM) Intercalated disc protein mutations Sarcomeric protein mutations Left ventricular non-compaction
  β myosin heavy chain Z-band Plakoglobin Troponin I (RCM ± HCM) Barth syndrome
  Cardiac myosin binding protein C Muscle LIM protein Desmoplakin Essential light chain of myosin Lamin A/C
  Cardiac troponin 1 TCAP Plakophilin 2 Familial amyloidosis ZASP
  Troponin T Cytoskeletal genes Desmoglein 2 Transthyretin (RCM + neuropathy) α-dystrophin
  α-tropomyosin Dystrophin Desmocollin 2 Apolipoprotein (RCM + neuropathy)  
  Essential myosin light chain Desmin Cardiac ryanodine receptor (RyR2) Desminopathy  
  Regulatory myosin light chain Metavinculin Transforming growth factor-β3 (TGFβ3) Pseuxanthoma elasticum  
  Cardiac actin Sarcoglycan complex   Haemochromatosis  
  α-myosin heavy chain CRYAB   Anderson-Fabry disease  
  Titin Epicardin   Glycogen storage disease  
  Troponin C Nuclear membrane    
  Muscle LIM protein Lamin A/C    
  Glycogen storage disease (e.g. Pompe; PRKAG2, Forbes’, Danon) Emerin    
  Lysosomal storage disease (e.g. Anderson-Fabry, Hurler’s) Mildly dilated CM    
  Disorders of fatty metabolism Intercalated disc protein mutations (see ARVC)    
  Carnitine Deficiency Mitochondrial myopathy    
  Phosphorylase B kinase deficiency Dystrophies    
  Mitochondrial cytopathies     
  Syndromic HCM     
  Noonan syndrome     
  LEOPARD syndrome     
  Friedriech’s ataxia     
  Beckwith-Wiedermann syndrome     
  Swyer’s syndrome     
  Other     
  Phospholamban promotor     
  Familal amyloid     
Non familial Obesity Myocarditis (infective/toxic/autoimmune) Inflammation? Amyloid (AL/prealbumin) Tako Tsubo cardiomyopathy
  Infants of diabetic mothers Kawasaki disease   Scleroderma  
  Athletic training Eosinophilic (Churg Strauss syndrome)   Endomyocardial fibrosis  
  Amyloid (AL/prealbumin) Viral persistence   Hypereosinophilic syndrome  
   Drugs   Idiopathic  
   Pregnancy   Chromosomal cause  
   Endocrine   Drugs (serotonin, methysergide, ergotamine)  
   Nutritional—thiamine, carntitine, selenium, hypophosphatemia, hypocalcemia    
   Alcohol   Carcinoid heart disease  
   Tachycardiomyopathy   Metastatic cancers  
     Radiation  
     Drugs (anthracyclines)