Metabolic cardiomyopathies

Int J Exp Pathol. 2000 Dec;81(6):349-72. doi: 10.1046/j.1365-2613.2000.00186.x.

Abstract

The energy needed by cardiac muscle to maintain proper function is supplied by adenosine Ariphosphate primarily (ATP) production through breakdown of fatty acids. Metabolic cardiomyopathies can be caused by disturbances in metabolism, for example diabetes mellitus, hypertrophy and heart failure or alcoholic cardiomyopathy. Deficiency in enzymes of the mitochondrial beta-oxidation show a varying degree of cardiac manifestation. Aberrations of mitochondrial DNA lead to a wide variety of cardiac disorders, without any obvious correlation between genotype and phenotype. A completely different pathogenetic model comprises cardiac manifestation of systemic metabolic diseases caused by deficiencies of various enzymes in a variety of metabolic pathways. Examples of these disorders are glycogen storage diseases (e.g. glycogenosis type II and III), lysosomal storage diseases (e.g. Niemann-Pick disease, Gaucher disease, I-cell disease, various types of mucopolysaccharidoses, GM1 gangliosidosis, galactosialidosis, carbohydrate-deficient glycoprotein syndromes and Sandhoff's disease). There are some systemic diseases which can also affect the heart, for example triosephosphate isomerase deficiency, hereditary haemochromatosis, CD 36 defect or propionic acidaemia.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Animals
  • Calcium / metabolism
  • Cardiomegaly / metabolism
  • Cardiomyopathies / etiology*
  • Cardiomyopathies / metabolism*
  • Cardiomyopathy, Alcoholic / metabolism
  • Carnitine / deficiency
  • Diabetes Mellitus / metabolism
  • Fatty Acids / metabolism
  • Glucose / metabolism
  • Heart Failure / metabolism
  • Humans
  • Lysosomal Storage Diseases / metabolism
  • Malonyl Coenzyme A / metabolism
  • Mitochondrial Myopathies / metabolism
  • Mucopolysaccharidoses / metabolism
  • Myocardium / metabolism*
  • Oxidative Phosphorylation

Substances

  • Fatty Acids
  • Malonyl Coenzyme A
  • Glucose
  • Carnitine
  • Calcium