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

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    Author
    Cooray, SD; Heerasing, NM; Selkrig, LA; Subramaniam, VN; Hamblin, PS; McDonald, CJ; McLean, CA; McNamara, E; Leet, AS; Roberts, SK
    Date
    2018-01-26
    Source Title
    Journal of Medical Case Reports
    Publisher
    Springer Science and Business Media LLC
    University of Melbourne Author/s
    Hamblin, Peter; McLean, Catriona
    Affiliation
    Florey Department of Neuroscience and Mental Health
    Medicine and Radiology
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Cooray, S. D., Heerasing, N. M., Selkrig, L. A., Subramaniam, V. N., Hamblin, P. S., McDonald, C. J., McLean, C. A., McNamara, E., Leet, A. S. & Roberts, S. K. (2018). Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report.. J Med Case Rep, 12 (1), pp.18-. https://doi.org/10.1186/s13256-017-1526-6.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/255621
    DOI
    10.1186/s13256-017-1526-6
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787235
    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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