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Publication AbstractsAn Aviator with Cardiomyopathy and Genetic Susceptibility to Hereditary Hemochromatosis: A Case ReportEric H. Hanson, M.D., M.P.H., Philip M. Shue, M.D., M.P.H., Ants Palm-Leis, M.D., and Robb K. Rowley, M.D.Aviat Space Environ Med 2001; 72:924-7 AbstractA 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.Keywords: cardiomyopathy, hereditary hemochromatosis, HFE gene, left bundle branch block, genetic testing, pilot. Information on subscribing, and on obtaining copies of an article or of an entire issue. Table of Contents for Volume 72, Number 10 of the ASME journal.
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