Skip to main content

01.12.2018 | Case report | Ausgabe 1/2018 Open Access

Journal of Medical Case Reports 1/2018

Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report

Journal of Medical Case Reports > Ausgabe 1/2018
Shamil D. Cooray, Neel M. Heerasing, Laura A. Selkrig, V. Nathan Subramaniam, P. Shane Hamblin, Cameron J. McDonald, Catriona A. McLean, Elissa McNamara, Angeline S. Leet, Stuart K. Roberts



Juvenile hemochromatosis is the most severe form of iron overloading phenotype. Although rare, it should be suspected in patients who present with hypogonadotropic hypogonadism, diabetes mellitus, or cardiomyopathy without a clear cause.

Case presentation

A young Serbian male presenting with end-stage heart failure was referred for extracorporeal membrane oxygenation. An endomyocardial biopsy revealed cytoplasmic iron deposits in myocytes. His condition was stabilized with biventricular assist devices and he was listed for heart transplantation. Iron chelation therapy was commenced and resulted in rapid removal of iron burden. Serial outpatient echocardiograms demonstrated myocardial recovery such that a successful biventricular assist device explant occurred 131 days after initial implant. Targeted gene sequencing revealed a loss-of-function mutation within the HJV gene, which is consistent with juvenile hemochromatosis.


This rare case of a patient with juvenile hemochromatosis associated with a HJV mutation provides histologic evidence documenting the reversal of associated end-stage heart failure, requiring emergent mechanical circulatory support, with iron chelation therapy.

Unsere Produktempfehlungen

e.Med Interdisziplinär


Mit e.Med Interdisziplinär erhalten Sie Zugang zu allen CME-Fortbildungen und Fachzeitschriften auf Zusätzlich können Sie eine Zeitschrift Ihrer Wahl in gedruckter Form beziehen – ohne Aufpreis.

Jetzt e.Med zum Sonderpreis bestellen! 

e.Med Allgemeinmedizin


Mit e.Med Allgemeinmedizin erhalten Sie Zugang zu allen CME-Fortbildungen und Premium-Inhalten der allgemeinmedizinischen Zeitschriften, inklusive einer gedruckten Allgemeinmedizin-Zeitschrift Ihrer Wahl.

Jetzt e.Med zum Sonderpreis bestellen! 

Über diesen Artikel

Weitere Artikel der Ausgabe 1/2018

Journal of Medical Case Reports 1/2018 Zur Ausgabe