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

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.