title: -Cardiomyopathy as the cause of death in genetic hemochromatosis-.
abstract: Hemochromatosis is an autosomal-recessive disease which causes iron-overload of various organs including liver, pancreas and heart. This report analyzes the course of hemochromatosis in two patients (a 28-year-old man and a 57-year-old woman) in whom hemochromatosis was detected because of severe cardiomyopathy. Initial symptoms were edema, anasarca and dyspnea. Further examinations showed pleural effusion, decreased left-ventricular-function, skin pigmentation, diabetes mellitus and liver cirrhosis. Although phlebotomy treatment and iron-chelation therapy with deferoxamine initially resulted in some improvement, both patients died from cardiomyopathy three months after diagnosis. The reports of these two cases underline that hemochromatosis-associated cardiomyopathy is often irreversible if severe congestive heart failure is present. In cardiac decompensation heart transplantation has to be considered as early as possible.
authors.affiliation: Abteilung für Gastroenterologie, Hepatologie und Infektiologie, Heinrich-Heine-Universität Düsseldorf.
authors.forename: A
authors.initials: A
authors.lastname: von Herbay
authors.forename: C
authors.initials: C
authors.lastname: Niederau
authors.forename: M
authors.initials: M
authors.lastname: Pilichowska
authors.forename: P
authors.initials: P
authors.lastname: Reinecke
authors.forename: C
authors.initials: C
authors.lastname: Perings
authors.forename: E
authors.initials: E
authors.lastname: Vester
authors.forename: G
authors.initials: G
authors.lastname: Strohmeyer
authors.forename: D
authors.initials: D
authors.lastname: Häussinger
mesh_terms: D000328:Adult; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology; D002423:Cause of Death; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006333:Heart Failure / Q000235:genetics / Q000473:pathology; D006432:Hemochromatosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000473:pathology
vernacular_title: Kardiomyopathie als Todesursache bei genetischer Hämochromatose.