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Journal of Medical Case Reports
Published in: Journal of Medical Case Reports 1/2018

Open Access 01-12-2018 | Case report

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

Authors: 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

Published in: Journal of Medical Case Reports | Issue 1/2018

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Abstract

Background

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.

Conclusions

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.
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Metadata
Title
Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report
Authors
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
Publication date
01-12-2018
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2018
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-017-1526-6

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