Myocardial longitudinal strain as the first herald of cardiac impairment in very early iron overload state: an echocardiography and biosusceptometry study on beta-thalassemia patients.

BACKGROUND: Heart diseases due to iron overload are still the main cause of mortality in patients affected by beta-thalassemia. Detection of cardiac iron overload in pre-clinical stage allows tailoring of chelation therapy and follow-up strategies. Echocardiographic longitudinal strain analysis may be a useful tool for early detection of cardiac functional impairment iron-related. METHODS: We examined 58 patients with beta-thalassemia on regular blood transfusion and iron chelation, without overt cardiac disease who had recent Biosusceptometry SQUID to quantify liver iron concentration and cardiac assessment by CMR T2*. RESULTS: Average global longitudinal strain (GLS) was able to identify abnormal (<20 ms) cardiac T2* values with 96% specificity and negative predictive value of 92% (AUC 0.84, P=0.01). Apical 4-ch GLS may help identify early longitudinal impairment associated with severe liver iron overload with 96% specificity and negative predictive value of 92% (AUC 0.84, P=0.02). Patients with severe liver iron overload had lower average Global Longitudinal Strain values compared to other patients (P-value =0.005). CONCLUSION: GLS was a sensitive marker to detect both myocardial and liver iron overload in a population that is still free from cardiac symptoms. Thus, strain echocardiography may be a useful tool for early detection of iron overload in Beta-thalassemia.

The Influence of Cardiovascular Risk Factors and Hypogonadism on Cardiac Outcomes in an Aging Population of Beta-Thalassemia Patients.

Beta-thalassemia major (ß-TM) is a hereditary genetic disease worsened by many comorbidities due to transfusion-related iron despite chelation therapy. Since there has recently been an increase in life expectancy of patients to up to 50 years old, which influences the prevalence of these diseases and the time span for traditional cardiovascular risk factors to play their role, this study aims to evaluate their distribution and prevalence in a population of thalassemia major patients and their relationship with observed cardiovascular events and potential modifying factors. One hundred and fifty-nine ß-TM patients with at least 15 years of follow-up were included in this study. The mean age was 40.9 ± 8.4 years; 28% had diabetes mellitus and 62% had hypogonadism. The cardiovascular risk assessed using algorithms (CUORE and Pooled Cohort Risk Equation-PCRE) was low, but 3.8% of patients had at least one episode of heart failure, 35.9% showed early signs of heart failure, 22% received a diagnosis of diastolic dysfunction, and 21.4% showed supraventricular arrhythmias. Hypogonadism was shown to be related to the occurrence of cardiovascular events. The chronic accumulation of iron in the heart and the specific metabolic profile, mainly observed in patients with hypogonadism, allows us to define ß-TM as a condition with a high level of cardiovascular risk from many points of view (iron-related myopathy, atherosclerosis and arrhythmias), which requires better stratification tools and a specific follow-up program.

Atrial fibrillation in ß-thalassemia Major Patients: Diagnosis, Management and Therapeutic Options.

The prevalence of atrial fibrillation (AFib) in ß-thalassemia major (ß-TM) patients has increased in the last few years, reaching up to 33.0%. Several factors may drive this value to even more in the next few years. We summarized the main challenges in the management and therapy of AFib in this very specific group of patients.

Comparative effects of deferiprone and deferoxamine on survival and cardiac disease in patients with thalassemia major: a retrospective analysis.

BACKGROUND AND OBJECTIVES: Iron-induced cardiac disease remains the main cause of death in patients with thalassemia major, despite chelation therapy with deferoxamine. Deferiprone is an iron chelator that has the potential to be more effective than deferoxamine in removing intracellular iron from the heart. However, to date, no study has been designed to examine the frequency of cardiac complications and survival as the primary outcomes of a comparative study between these two chelators. This retrospective study assessed the survival and the occurrence of cardiac disease in all patients with thalassemia major treated for at least 4 years with deferiprone or deferoxamine at a single center. DESIGN AND METHODS: The patients were, on average, 18.4 years old at the start of the review period and were followed up, on average, for 6 years. At baseline there was no significant difference in the percentage of patients with cardiac disease in the two therapy groups. RESULTS: At the end of the study, cardiac dysfunction, expressed as worsening of pre-existing cardiac abnormality or development of new cardiac disease, was diagnosed in 2 (4%) of the 54 deferiprone-treated patients and in 15 (20%) of the 75 deferoxamine-treated patients, from the first to the last measurement (p = 0.007). The Kaplan Meier analysis of cardiac disease-free survival over the 5-year period was significantly more favorable in the deferiprone group (p = 0.003). INTERPRETATION AND CONCLUSIONS: None of the patients treated with deferiprone died, while 3 of the patients treated with deferoxamine died because of irreversible worsening of their cardiac condition during the study period. Findings from this study suggest that long-term therapy with deferiprone provides a greater cardio-protective effect against the toxicity of iron overload than does subcutaneous deferoxamine. Formal prospective studies are warranted to confirm this effect.