title: An aviator with cardiomyopathy and genetic susceptibility to hereditary hemochromatosis: a case report.
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.
authors.affiliation: Air Force Residency in Aerospace Medicine, USAFSAM, Brooks AFB, TX, USA. erichanson@satx.rr.com
authors.forename: E H
authors.initials: EH
authors.lastname: Hanson
authors.forename: P M
authors.initials: PM
authors.lastname: Shue
authors.forename: A
authors.initials: A
authors.lastname: Palm-Leis
authors.forename: R K
authors.initials: RK
authors.lastname: Rowley
mesh_terms: D000328:Adult; D002037:Bundle-Branch Block / Q000175:diagnosis; D009202:Cardiomyopathies / Q000209:etiology*; D020022:Genetic Predisposition to Disease; D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008889:Military Personnel; D020125:Mutation, Missense; D014481:United States
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins