The heart in transfusion dependent homozygous thalassaemia today--prediction, prevention and management

Abstract

Cardiac disease remains the major cause of death in thalassaemia major. This review deals with the mechanisms involved in heart failure development, the peculiar clinical presentation of congestive heart failure and provides guidelines for diagnosis and management of the acute phase of cardiac failure. It emphasizes the need for intensive medical--cardiac care and aggressive iron chelating management as, with such approaches, today, the patients outcomes can be favourable in the long term. It covers advances in the assessment of cardiac iron overload with the use of magnetic resonance imaging and makes recommendations for preventing the onset of cardiac problems by tailoring iron chelation therapy appropriate to the degree of cardiac iron loading found.

Figure 1

(A) Operative field in a 27 yr old male thalassaemia patient with a history of recurrent pericarditis and effusive constrictive pericarditis at the time of surgery (B) with biopsy from the same patient demonstrating significant pericardial thickening with severe iron deposition and a small amount of muscle in the left hand corner which contains iron (Prussian Blue Stain).

Figure 2

Histological features from an autopsy from a 29 yr old male thalassaemia patient who died of congestive cardiac failure. Histology shows individual myocyte hypertrophy with multiple deposits of brown granular material within the cytoplasm of the myocytes. These granules stain positive with Prussian blue, confirming heavy myocardial iron deposition.

Figure 3

A 30 yr old female thalassaemia patient 2-D four chamber view with the presence of an apical thrombus.