Beta thalassemia cardiomyopathy

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Untreated thalassemia Major eventually leads to death usually by heart failure, therefore birth screening is very important. β-Thalassemia cardiomyopathy takes on two phenotypes:

Dilated phenotype: Left ventricular dilatation and impaired contractility are present

Restrictive phenotype: Restrictive left ventricular filling is present along with pulmonary hypertension, and right heart failure.

The pathophysiology of β-Thalassemia cardiomyopathy is multifactorial, with myocardial iron overload and immunoinflammatory processes being the predominant mechanisms.