ArticleJournal of medical case reports2018
Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report.
Article in Journal of medical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.Orphanet journal of rare diseases · 2019Pooled it
- Hemojuvelin-Associated Juvenile Hemochromatosis: Fulminant Heart Failure, Complete Heart Block, and Ventricular Arrhythmias.JACC. Case reports · 2026Article
- Cardiomyocyte programmed cell death in dilated cardiomyopathy: molecular crosstalk and therapeutic implications.Frontiers in cell and developmental biology · 2026Review
- Article
- Diagnosis and Management of Non-HFE Hemochromatosis, Ferroportin Disease, and Rare Hereditary Iron-Loading Disorders.Advances in experimental medicine and biology · 2025Review
- Diagnosis and management of hereditary hemochromatosis: lifestyle modification, phlebotomy, and blood donation.Hematology. American Society of Hematology. Education Program · 2024Review
- An Iron-chelating Agent Improved the Cardiac Function in a Patient with Severe Heart Failure Due to Hereditary Hemochromatosis.Internal medicine (Tokyo, Japan) · 2024Article
- Hepcidin and Iron in Health and Disease.Annual review of medicine · 2023Review
- Juvenile Hemochromatosis due to a Homozygous Variant in theCase reports in pediatrics · 2022Article
- Hidden in Heart Failure.European cardiology · 2019Review
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundJuvenile 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.
conclusionsThis 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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.