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Impact of Iron Overload on Echocardiographic Parameters in a Cohort of Patients with Hereditary Haemochromatosis
Session:
Sessão de Posters 21 - Por dentro do miocárdio: da genética aos resultados
Speaker:
Tiago Prata Branco
Congress:
CPC 2026
Topic:
K. Cardiovascular Disease In Special Populations
Theme:
30. Cardiovascular Disease in Special Populations
Subtheme:
30.14 Cardiovascular Disease in Special Populations - Other
Session Type:
Posters Eletrónicos
FP Number:
---
Authors:
Tiago Prata Branco; Benedita Couto Viana; Erivaldo Andrade; Luana Alves; Joana Gonçalves; Bernardo Cruz; Emanuel Oliveira; Miguel Rocha; Helena Moreira; Ricardo Lopes; Carla Sousa; Rui Rodrigues
Abstract
<p style="text-align:justify"><strong>Introduction: </strong>Hereditary haemochromatosis may lead to myocardial iron deposition, potentially resulting in structural and functional cardiac alterations detectable by echocardiography. However, the extent to which biochemical markers of iron overload correlate with echocardiographic parameters in clinical practice remains uncertain, particularly in adequately treated patients.</p> <p style="text-align:justify"><strong>Purpose: </strong>To evaluate the association between markers of iron overload (serum ferritin and transferrin saturation) and echocardiographic parameters in patients with hereditary haemochromatosis.</p> <p style="text-align:justify"><strong>Methods: </strong>A cross-sectional study was conducted in 48 patients with confirmed hereditary haemochromatosis who underwent transthoracic echocardiography. Demographic, clinical, therapeutic and biochemical data (ferritin and transferrin saturation), as well as echocardiographic indices of systolic function, diastolic function and ventricular remodelling, were collected. Correlation analyses were performed to evaluate associations between iron markers and echocardiographic variables.</p> <p style="text-align:justify"><strong>Results: </strong>Mean age was 57.8 years, 72% were male, and mean BMI was 27.6 kg/m². Hypertension was present in 47%, diabetes in 22%, chronic liver disease in 12.5% and significant alcohol consumption in 19%. Coronary artery disease occurred in 3.1% and atrial fibrillation in 12.5%. Most patients were treated with phlebotomy (87.5%) and 6.3% received iron-chelating therapy. Median ferritin was 418.3 ng/mL and median transferrin saturation 41%. The median interval between diagnosis and echocardiography was 3 years, and 78% of patients had only one echocardiographic assessment.<br /> Left ventricular systolic function was preserved in 87.5%, with a median LVEF of 57.5%. Ventricular geometry was normal in 50%, while 28% showed concentric remodelling, 12.5% concentric hypertrophy and 9.5% eccentric hypertrophy. Diastolic function was normal in 72%, Grade I in 9% and Grade II in 19%; no Grade III dysfunction was observed. No statistically significant associations were found between ferritin or transferrin saturation and any echocardiographic parameter, including systolic function, diastolic function or ventricular remodelling.</p> <p style="text-align:justify"><strong>Conclusion: </strong>In this cohort of predominantly treated patients evaluated relatively early in the disease course, iron overload markers did not correlate with echocardiographic findings. These results suggest an absence of measurable cardiac involvement at this stage, possibly reflecting effective iron depletion and the short time between diagnosis and imaging. The fact that most patients had only one echocardiographic assessment limits evaluation of temporal progression. Longitudinal studies are needed to determine whether cardiac alterations emerge later and whether biochemical markers may help predict such changes.</p>
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