An aviator with cardiomyopathy and genetic susceptibility to hereditary hemochromatosis: a case report

Aviat Space Environ Med. 2001 Oct;72(10):924-7.

Abstract

A 44-yr-old male pilot was diagnosed with non-ischemic cardiomyopathy, possibly as a complication of hereditary hemochromatosis, 8 yr after an acquired left bundle branch block was discovered on a routine ECG. Biochemical testing returned high levels of iron and percentage transferrin saturation, and genetic testing for hemochromatosis was remarkable for a heterozygous H63D mutation in the HFE gene on chromosome 6. Hereditary hemochromatosis should be considered in the differential diagnosis when a patient presents with cardiomyopathy and genetic testing for HFE gene variants influencing iron overload is now available as a clinical adjunct for diagnosis and patient management issues. Cardiomyopathy and symptomatic hemochromatosis are aeromedically disqualifying conditions in the U.S. Air Force; however, early identification of hereditary hemochromatosis susceptibility with biochemical or genetic diagnostic tests, followed by education in primary and secondary prevention, will prevent a significant proportion of the possible sequelae.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bundle-Branch Block / diagnosis
  • Cardiomyopathies / etiology*
  • Genetic Predisposition to Disease*
  • HLA Antigens / genetics
  • Hemochromatosis / complications
  • Hemochromatosis / genetics*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • Male
  • Membrane Proteins*
  • Military Personnel*
  • Mutation, Missense
  • United States

Substances

  • HFE protein, human
  • HLA Antigens
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins