Cardiac involvement in beta-thalassaemia: current treatment strategies

ABSTRACT

Despite the advances in the management of thalassemia major, heart disease remains the leading cause of mortality in patients afflicted with this disorder. Cardiac involvement in thalassemia encompasses a spectrum of disorders including myocardial dysfunction, arrhythmias, pulmonary hypertension, and peripheral vascular disease. Although cardiac siderosis (accumulation of iron in cardiac myocytes) as a consequence of repeated blood transfusions is deemed to be the main etiologic factor for myocardial dysfunction in transfusion-dependent patients, the significance of other pathophysiologic mechanisms is being increasingly recognized especially in non-transfusion dependent patients. Management of cardiac complications in thalassemia major hinges on the treatment of the underlying pathophysiology, which often is unmitigated iron overload. The prevalence and predictors of cardiac complications in ‘ex-thalassaemics’ [thalassaemic patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT) is unknown at present. In this review, we look at the pathogenesis of cardiac involvement in patients with beta-thalassemia major, the advances in the management of these patients and the future prospects.

KEYWORDS:

• Beta-Thalassaemia
• Cardiomyopathy
• treatment
• siderosis

Key points

• Despite the advances in the management of thalassemia major, heart disease remains the leading cause of mortality in these patients

• Repetitive blood transfusions constitute the major risk factor for iron overload cardiomyopathy in beta thalassemia major

• Susceptibility to iron toxicity and its phenotypic manifestations vary greatly among cases of thalassemia

• Immunoinflammatory and inherited factors play a significant role in the pathogenesis of non-iron-overload cardiomyopathy in thalassemia

• Cardiac manifestations of thalassemia include myocardial dysfunction, arrhythmias, pulmonary hypertension, and peripheral vascular disease

• Cardiac dysfunction generally lags cardiac iron deposition by several years

• Various methods, including serum ferritin levels, cardiac magnetic resonance T2* and histopathological examination, are available for estimation of iron overload

• Regular monitoring of iron load as well as myocardial function is warranted in patients with beta thalassemia receiving repeated blood transfusions

• Management of cardiac complications in thalassemia major hinges on the treatment of the underlying pathophysiology, which often is unmitigated iron overload

• The prevalence and predictors of cardiac complications in ‘ex-thalassaemics’ [thalassaemic patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT)]is unknown at present

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties. Peer reviewers on this manuscript have no relevant financial relationships to disclose.

Additional information

Funding

This manuscript was not funded.