Influence of hereditary haemochromatosis on left ventricular wall thickness: does iron overload exacerbate cardiac hypertrophy?

Abstract

Background: The left ventricular (LV) hypertrophy increases the risk of heart failure. Hypertension and infiltrative cardiomyopathies are the well-known reasons of LV hypertrophy. The growing interest of scientists in this issue affects hereditary haemochromatosis (HH), which is characterised by the excess deposition of iron mostly due to HFE gene mutation. The aim of our study was to investigate the possible influence of HH on LV parameters in patients with early-diagnosed (early HH) and long-lasting and long-treated (old HH) disease. Materials and methods: Thirty nine early HH and 19 old HH patients were prospectively enrolled in the study; age-and sex-matched healthy volunteers constituted the appropriate control groups. All participants had echocardiography performed (including three-dimension volume and mass analysis); the iron turnover parameters were measured at the time of enrolment in every HH patients. Results: Echocardiographic parameters regarding to left atrium (LA), LV thickness, mass and long axis length were significantly higher, whereas LV ejection fraction was lower in early HH in comparison to healthy persons. In old HH patients the differences were similar to those mentioned before, except LV ejection fraction. The presence of hypertension in both HH groups did not influence echo parameters, as well as diabetes in old HH. The strongest correlation in all HH group was found between the time from HH diagnosis and LA, LV thickness and volumes parameters, but the correlations between iron turnover and echo parameters were non-existent. Conclusions: Hereditary haemochromatosis, not only long-lasting, but also early-diagnosed, could lead to exacerbation of LV wall thickness and cardiac hypertrophy. This effect is not simply connected with hypertension and diabetes that are frequent additional diseases in these patients, but with the time from HH diagnosis.

Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis—The Cardiological Point of View

“…Based on our previous research, we could postulate that 2D STE seems to be the test of choice in patients with HH for detecting and monitoring early changes in the heart and for the implementation of treatment at the preclinical stage of the disease. It is noteworthy that, according to data from the literature and our research, correlations between 2D STE myocardial parameters and the iron indices in the serum are rather wicking or even absent [92,94]. This agrees with the results regarding other iron-overload syndromes [95,96], which suggest the absence of a "direct" relationship between routinely measured in the everyday clinical practice iron turnover parameters and myocardial damage.…”

“…Furthermore, some authors suggested 3D echocardiography to be helpful for earlier detection of left atrial dysfunction in asymptomatic patients with cardiac iron overload [ 98 ]. In one of our previous studies [ 94 ], we used 3D echocardiography in the evaluation of left ventricle volume and mass, as well as left ventricular ejection fraction in patients with early-diagnosed in comparison to long-lasting HH, and suggested that we may deal with hemochromatosis-induced cardiomyopathy, rather than with simple LV thickening. Therefore, 3D echocardiography seems to be an essential technique for HH patients’ assessment in the future.…”

Unusual echocardiographic evidence of hypercoagulation in usual left atrial appendage as the first and only sign of COVID-19

“…The presented case additionally shows that a negative test for SARS-CoV-2 infection does not always give a full guarantee that the patient is not infected, and the patient's clinical manifestation should be taken into account in further clinical decisions. It is worth emphasizing that modern echocardiography, including three-dimensional techniques, can be recognized as a part of comprehensive imaging technology that could be helpful in COVID-19 diagnosis [12].…”

The Importance of Multimodality Imaging in the Diagnosis and Management of Patients with Infiltrative Cardiomyopathies: An Update

“…Myocardial concentric or asymmetric nonextreme hypertrophy with gradual left ventricular remodeling and dysfunction is the commonest phenotype in cardiac hemochromatosis [26]. Rozwadowska et al performed an analysis on 39 volunteers with early diagnosed HH and 19 with long-lasting and long-treated HH and concluded that both early and old HH are linked to LV hypertrophy, independent of other comorbidities such as arterial hypertension and diabetes [27].…”