-Cardiomyopathy as the cause of death in genetic hemochromatosis-.
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.
von Herbay
A
A
Abteilung für Gastroenterologie, Hepatologie und Infektiologie, Heinrich-Heine-Universität Düsseldorf.
Niederau
C
C
Pilichowska
M
M
Reinecke
P
P
Perings
C
C
Vester
E
E
Strohmeyer
G
G
Häussinger
D
D
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
Kardiomyopathie als Todesursache bei genetischer Hämochromatose.