Combined heart–liver transplantation in a case of haemochromatosis

Andrew D. Shubin, Lucia De Gregorio, Christine Hwang, Malcolm MacConmara

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Hereditary haemochromatosis results in multiorgan dysfunction secondary to iron overload. Haemojuvelin (HJV)-associated haemochromatosis, is a rapidly progressing form of haemochromatosis caused by mutation in the HJV that frequently results in heart and liver failure. Herein, we describe the successful treatment of a 39-year-old woman with decompensated heart failure and liver cirrhosis requiring extracorporeal membrane oxygenation who was successfully treated with combined heart–liver transplantation. Following her life-saving multiorgan transplantation, she was also noted to have rapid correction of her serum ferritin to normal levels. She remains healthy with excellent allograft function and normal iron and ferratin levels 4 years after the procedure. To our knowledge, this case is the first demonstration that combined heart–liver transplantation is a feasible option for patients with heart and liver failure secondary to HJV-associated haemochromatosis and indeed offers a long-standing corrective solution to treat this condition and restore physiologically normal iron metabolism.

Original languageEnglish (US)
Article numbere241508
JournalBMJ Case Reports
Issue number5
StatePublished - May 31 2021


  • cardiothoracic surgery
  • genetics
  • heart failure
  • liver disease
  • transplantation

ASJC Scopus subject areas

  • Medicine(all)


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