HEART-TRANSPLANTATION IN A CASE OF JUVENILE HEREDITARY HEMOCHROMATOSIS FOLLOWED UP BY MRI AND ENDOMYOCARDIAL BIOPSIES

Cardiac involvement in hereditary haemochromatosis (HH) is a poor prog nostic sign and is the main cause of death in the juvenile form. The t reatment of choice is iron removal therapy by phlebotomy, but treatmen t by iron chelation (desferrioxamine) has been recommended in cases wi th severe cardiac symptoms. We describe here the first case of juvenil e HH undergoing heart transplantation, which became necessary despite intensive iron removal therapy by phlebotomy and treatment by desferri oxamine. Throughout the course the myocardial iron content was monitor ed by endomyocardial biopsies and by magnetic resonance imaging (MRI). At the last follow-up, 18 months after transplantation, the myocardia l iron content in the transplanted heart was still within reference ra nges by biochemical determination and MRI and the patient's condition was completely satisfactory. In conclusion, heart transplantation shou ld be considered in cases of severe juvenile HH. In the follow-up of t hese patients MRI may be a useful supplement.