Background: Thalassemia major is a chronic hematologic disorder requiring regular blood transfusions and associated with a high risk of iron overload, including myocardial deposition and the development of cardiac hemochromatosis. This condition represents a leading cause of morbidity and mortality, making early detection of structural and functional cardiac alterations essential. Cardiac magnetic resonance imaging (CMR) with T2* technique is currently considered the gold standard for quantifying myocardial iron burden and enabling timely therapeutic action. Case Presentation: We report the case of a 24-year-old woman with transfusion-dependent thalassemia major, asymptomatic for chest pain, dyspnea, or palpitations, who presented to our outpatient clinic for a scheduled follow-up visit. Resting electrocardiography showed nonspecific ventricular repolarization abnormalities and reduced QRS voltage. Transthoracic echocardiography revealed an increased relative thickness of the interventricular septum, with marked myocardial hyperechogenicity and small punctate hyperechoic areas, findings suggestive of possible myocardial iron overload. Based on these echocardiographic features, CMR with T2* sequences was performed, demonstrating a significant reduction in myocardial T2* values (<20 ms), consistent with pathological iron accumulation and early cardiac involvement. Conclusions: This case highlights the essential role of T2* CMR in the early diagnosis of cardiac hemochromatosis in patients with thalassemia major. Early identification of myocardial iron overload allowed prompt intensification of iron chelation therapy and the implementation of a personalized cardiologic follow-up plan, potentially preventing progression toward overt cardiomyopathy. A multidisciplinary approach remains crucial to optimize clinical management in these patients.
Associazione Nazionale Medici Cardiologi Ospedalieri
