Thalassemia is a hereditary type of anemia caused by genetic mutations in the production of the globin chains in the hemoglobin molecule, and it is prevalent worldwide. These mutations in the alpha and beta globin genes result in the classification of the disease into two main types: alpha thalassemia and beta thalassemia. Beta thalassemia major (BTM) is the most severe form of thalassemia clinically, arising from severe disruptions in the production of beta globin chains. BTM typically manifests symptoms within the first two years of life and progressively leads to severe anemia. Affected individuals require regular blood transfusions to sustain life. However, these transfusions can cause serious side effects such as iron overload. (1)
In patients with BTM, iron overload resulting from repeated blood transfusions leads to serious complications, particularly in cardiac tissue. Iron accumulation impairs cardiac muscle function and results in restrictive cardiomyopathy. If left untreated, this can progress to fatal complications such as dilated cardiomyopathy, arrhythmias, and heart failure in later years. Cardiac complications are among the most common causes of death in beta thalassemia major patients. This underscores the importance of early initiation of iron chelation therapy. Early detection of cardiac iron overload and timely treatment can significantly reduce mortality rates. (2)
Cardiac magnetic resonance (CMR) imaging plays a critical role in the diagnosis and management of BTM. CMR T2*, a technique designed to measure myocardial iron deposition, is a vital component of BTM patient management and has been recognized as the gold standard by the Cardiovascular Magnetic Resonance Society (SCMR) Consensus (2017). A T2* value of <20 ms is considered significant for cardiac iron overload and provides quantitative metrics for detecting and monitoring myocardial involvement in BTM patients. A decreasing T2* value, representing increased cardiac iron burden, also corresponds to a potential reduction in ejection fraction (EF). However, there may be early subclinical changes in cardiac function that cannot be detected through EF variations. T2* values obtained via CMR evaluate myocardial dysfunction prior to EF decline, making it a valuable tool for predicting early myocardial dysfunction in BTM. (6,7)
According to the 2022 ESC Guidelines for the Management of Cardiovascular Diseases in Thalassemia, immediate chelation therapy is recommended for patients with T2* values of <20 ms obtained via CMR. Considering the complications caused by cardiac iron toxicity in transfusion-dependent patients, which significantly increase mortality, regular monitoring and treatment are critical factors in determining the quality and duration of life.
Strain imaging is an advanced echocardiographic technique that measures myocardial deformation. Even if the left ventricular ejection fraction (LVEF) is within normal limits, echocardiographic strain analysis has the capability to detect early myocardial involvement. The 2022 Cardio-Oncology Guidelines of the European Society of Cardiology recommend strain analysis during the initial evaluation of patients at risk of cardiotoxicity. Compared to ultrasonographic strain analysis, cardiac magnetic resonance strain (CMRS) offers broader advantages. CMRS minimizes operator-dependent variability, does not require a high-quality acoustic window, and provides higher spatial resolution, enabling more detailed evaluation of regional myocardial function. These features make CMRS a more reliable tool for monitoring myocardial function in beta thalassemia major (BTM) patients. This technique plays a crucial role in the early detection of myocardial dysfunction due to iron overload in BTM patients, helping prevent cardiac damage. (7,8)
In this study, we investigated the detailed cardiac MR strain characteristics in thalassemia patients, the relationship between these findings and iron levels, and the applicability of Mitral Annular Plane Systolic Excursion (MAPSE) strain analysis.