Heart failure of very rare aetiology-haemochromatosis Type 3: a case report

Abstract

Background: Haemochromatosis is a pathological condition characterized by the accumulation of iron in parenchymal organs, leading to toxic damage and dysfunction. Cardiac haemochromatosis represents one of the rare causes of severe heart failure (HF) that can be potentially prevented with targeted treatment.

Case summary: We present the case of a 41-year-old female who was hospitalized for decompensated HF. Echocardiography revealed severe systolic dysfunction with a phenotype of dilated cardiomyopathy, accompanied by secondary moderate mitral regurgitation and severe tricuspid regurgitation (TR). To differentiate potential causes of HF, coronary angiography, cardiac magnetic resonance imaging (MRI), and endomyocardial biopsy were performed. Based on clinical findings, laboratory results, cardiac MRI, and endomyocardial biopsy data, a diagnosis of haemochromatosis was confirmed, and mutations in the TFR2 gene, responsible for haemochromatosis Type 3, were identified. The patient was treated in accordance with the latest European Society of Cardiology HF guidelines, and specific treatment for haemochromatosis, including therapeutic phlebotomy and iron chelation therapy, was initiated, resulting in a significant positive outcome.

Discussion: Investigating the aetiology of HF is essential, as even rare causes can be identified, and specific treatments are available that significantly improve prognosis and survival.

Keywords: Case report; Dilated cardiomyopathy; Haemochromatosis type 3; Heart failure; Rare disease.

Figure 1

2D echocardiography: left ventricular longitudinal strain measurement (apical position four-chamber, two-chamber, and three-chamber views; strain values in the middle ‘bull’s-eye’ view). (A) Four-chamber view of the apical position: dilatation of all cardiac chambers, secondary large tricuspid regurgitation by colour Doppler; (B) apical position four-chamber view: colour Doppler—secondary moderate mitral regurgitation.

Figure 2

Cardiac magnetic resonance imaging: (A) bilateral hydrothorax; (B) dilated cardiac chambers, biventricular dysfunction: left ventricular ejection fraction 22%; right ventricular ejection fraction 32%; (C, D) signs of contrast material accumulation at the point of insertion of the ventricles.

Figure 3

Cardiac magnetic resonance imaging: sequence of T1 maps, short-axis images. (A–C) in diastole with values of relaxation times (tables), (D–F) in systole.

Figure 4

Abdominal magnetic resonance imaging: (A) liver with diffusely very low signal intensity; (B) liver with normal signal intensity.