Infiltrative cardiomyopathy

Last revised by Joachim Feger on 17 Dec 2021

Infiltrative cardiomyopathies are a group of diseases characterized by the deposition of different substances either within the cells or the extracellular space of the myocardium leading first to altered ventricular filling and diastolic dysfunction and eventually to overt systolic dysfunction 1-5

Most of the infiltrative cardiomyopathies are associated with left ventricular hypertrophy, a few are characterized by left ventricular remodeling and dilation.

The following heart diseases are considered infiltrative cardiomyopathies 1-6:

  • cardiac amyloidosis
    • extracellular amyloid fibril deposition
    • cardiac hypertrophy also of the right atrial wall and septum 
    • atrial enlargement
  • Anderson-Fabry disease
    • myocardial glycosphingolipid accumulation preferably in the myocytes sarcoplasmic vacuolisation
    • myocardial fibrosis characteristically in basal inferolateral segments
    • concentric hypertrophy
  • Danon disease
    • lysosomal storage disorder with glycogen accumulation within the cardiac myocytes
    • myocyte hypertrophy, cardiac myocyte disarray and vacuolisation
    • myocardial fibrosis, often subendocardial with septal sparing
    • concentric hypertrophy or ventricular dilation (in females)
  • PRKAG2 deficiency
    • increased glycogen storage due to increased cellular uptake
    • cardiac hypertrophy
  • eosinophilic heart disease (endomyocardial fibrosis, endocardial fibroelastosis, hypereosinophilic syndrome)
    • eosinophilic infiltration of endocardium and myocardium
  • mucopolysaccharidoses
    • accumulation of glycosaminoglycans
    • cardiac hypertrophy and valvular heart disease
  • Friedreich ataxia
    • mitochondrial iron accumulation
    • cardiac myocyte hypertrophy and myocardial fibrosis
  • myocardial oxalosis
    • oxalic acid crystal deposition
    • increased left ventricular mass and left atrial enlargement
  • Pompe disease
    • lysosomal storage disorder
  • iron overload cardiomyopathy
    • myocardial iron deposition
    • associated with maladaptive remodeling 
    • left ventricular dilation or restrictive left ventricular filling
  • cardiac sarcoidosis
    • noncaseating granulomas and/or diffuse infiltration with surrounding fibrosis
    • left ventricular free wall and basal septum most frequently involved
    • might manifest with remodeling but not necessarily cardiac hypertrophy
  • granulomatosis with polyangiitis
    • noncaseating granulomas and/or diffuse infiltration with surrounding fibrosis
    • involvement of the respiratory tract and kidneys

See also

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