Zusammenfassung
Ein 28-jähriger Patient wurde mit dekompensierter Herzinsuffizienz notfallmäßig zugewiesen. In der Vorgeschichte bestand ein hypogonadotroper Hypogonadismus. Echokardiographisch fand sich eine dilatative Kardiomyopathie. Ein erhöhtes Serumferritin und eine Eisenüberladung in der Leberbiopsie ließen eine hereditäre Hämochromatose vermuten. Die kardiale Beteiligung konnte mittels Magnetresonanztomographie nachgewiesen werden. Genetische Abklärungen ergaben eine homozygote Mutation für G320V und bewiesen eine juvenile Hämochromatose. Eine Aderlasstherapie führte innerhalb eines Jahres zur Normalisierung des Eisenstatus und der kardialen Pumpfunktion.
Abstract
A 28-year was admitted with heart failure. His medical history included treatment for hypogonadotropic hypogonadism. Echocardiography showed dilatation of all chambers. Elevated serum ferritin levels and liver biopsy indicated hereditary hemochromatosis. Cardiac iron overload was seen on magnetic resonance imaging. Genetic testing revealed homozygosis for G320 V mutation, confirming the diagnosis of juvenile hemochromatosis. Phlebotomy on a biweekly regimen was started and after twelve months of therapy the patient had normal ferritin values as well as normal ejection fraction on echocardiography.
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Burri, E., Decker, M., Eriksson, U. et al. 28-jähriger Patient mit erfolgreich behandelter dilatativer Kardiomyopathie. Internist 49, 349–352 (2008). https://doi.org/10.1007/s00108-007-2007-6
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DOI: https://doi.org/10.1007/s00108-007-2007-6