Review: Metabolic cardiomyopathy and conduction system defects in children

Ann Clin Lab Sci. 2004 Winter;34(1):15-34.

Abstract

Metabolic cardiomyopathies include amino acid, lipid and mitochondrial disorders, as well as storage diseases. A number of metabolic disorders are associated with both myopathy and cardiomyopathy. These include the glycogen storage diseases, ie, acid maltase deficiency (infantile, childhood, and adult onset), McArdle disease, and debrancher and brancher deficiencies. Disorders of lipid metabolism include systemic carnitine deficiency and abnormalities of carnitine palmitoyltransferase (CPT), long-chain acyl-CoA dehydrogenase, and multiple acyl-CoA dehydrogenase. Disorders of mitochondrial metabolism affect complex I, II, III, IV and V, in addition to multiple respiratory chain defects. These may cause either hypertrophic or dilated cardiomyopathy. In addition, cardiomyopathy is frequently a component part of the storage disorders, including mucopolysaccharidosis, mucolipidosis, Fabry disease, gangliosidosis, and neuronal ceroid lipofuscinosis. Primary hypertrophic cardiomyopathy is caused by mutations in one of the genes that encode proteins of the cardiac sarcomere. Mutations in different genes are attended by different prognoses and different risks of sudden death. Mutations of the genes for myosin binding protein C (MBPC) and tropomyosin have low penetrance and cause mild forms of primary hypertrophic cardiomyopathy, while mutations of the troponin T and B-myosin genes carry a worse prognosis. Conduction disorders result in cardiac arrhythmias that may be fatal. Histiocytoid cardiomyopathy is usually an autosomal recessive disorder that results in the presence of abnormal Purkinje cells that interfere with normal cardiac conduction. Other conduction defects include arrhythmogenic right ventricular dysplasia (ARVD), congenital heart block, noncompaction of the left ventricle, and long Q-T syndrome (LQTS). The genetic loci for LQTS reside usually in the potassium channel, and, less frequently, in the sodium channel (channelopathies). Although the histological appearance of some of these disorders may be diagnostic, molecular analysis is necessary to define clearly the particular type of cardiomyopathy.

Publication types

  • Review

MeSH terms

  • Adult
  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / etiology*
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / etiology*
  • Cardiomyopathies / genetics
  • Child
  • Female
  • Humans
  • Infant, Newborn
  • Metabolic Diseases / complications*
  • Metabolic Diseases / diagnosis
  • Metabolic Diseases / genetics
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / etiology
  • Mitochondrial Diseases / genetics
  • Pregnancy
  • Trace Elements / metabolism

Substances

  • Trace Elements