Beta-thalassemia cardiomyopathy: history, present considerations, and future perspectives

Circ Heart Fail. 2010 May;3(3):451-8. doi: 10.1161/CIRCHEARTFAILURE.109.913863.

Abstract

Beta-thalassemia is an inherited hemoglobin disorder resulting in chronic hemolytic anemia that typically requires life-long transfusion therapy. Although traditionally prevalent in the Mediterranean basin, Middle East, North India, and Southeast Asia, immigration of those populations to North America and Western Europe has rendered beta-thalassemia a global health problem. Cardiac complications represent the primary cause of mortality and one of the major causes of morbidity in those patients. Heart disease is mainly expressed by a particular cardiomyopathy that progressively leads to heart failure and death. The beta-thalassemia cardiomyopathy is mainly characterized by 2 distinct phenotypes, a dilated phenotype, with left ventricular dilatation and impaired contractility and a restrictive phenotype, with restrictive left ventricular filling, pulmonary hypertension, and right heart failure. The pathophysiology of the disorder is multifactorial, with a central role of myocardial iron overload and the significant contribution of immunoinflammatory mechanisms. Patients' management is demanding and requires a multidisciplinary approach, preferably in specialized centers.

Publication types

  • Review

MeSH terms

  • Cardiomyopathies / epidemiology*
  • Cardiomyopathies / physiopathology
  • Cardiomyopathies / therapy
  • Heart Failure / epidemiology*
  • Heart Failure / physiopathology
  • Heart Failure / therapy
  • Humans
  • beta-Thalassemia / complications*
  • beta-Thalassemia / physiopathology
  • beta-Thalassemia / therapy