Hereditary hemochromatosis (HH) is a genetic disease leading to excessive iron absorption, its accumulation, and oxidative stress induction causing different organ damage, including the heart. The process of cardiac involvement is slow and lasts for years. Cardiac pathology manifests as an impaired diastolic function and cardiac hypertrophy at first and as dilatative cardiomyopathy and heart failure with time. From the moment of heart failure appearance, the prognosis is poor. Therefore, it is crucial to prevent those lesions by upfront therapy at the preclinical phase of the disease. The most useful diagnostic tool for detecting cardiac involvement is echocardiography. However, during an early phase of the disease, when patients do not present severe abnormalities in serum iron parameters and severe symptoms of other organ involvement, heart damage may be overlooked due to the lack of evident signs of cardiac dysfunction. Considerable advancement in echocardiography, with particular attention to speckle tracking echocardiography, allows detecting discrete myocardial abnormalities and planning strategy for further clinical management before the occurrence of substantial heart damage. The review aims to present the current state of knowledge concerning cardiac involvement in HH. In addition, it could help cardiologists and other physicians in their everyday practice with HH patients.

Fatigue is a common, non-specific symptom that often impairs patients’ quality of life. Even though fatigue may be the first symptom of many serious diseases, it is often underestimated due to its non-specific nature. Iron metabolism disorders are a prominent example of conditions where fatigue is a leading symptom. Whether it is an iron deficiency or overload, tiredness is one of the most common features. Despite significant progress in diagnosing and treating iron pathologies, the approach to chronic fatigue syndrome in such patients is not precisely determined. Our study aims to present the current state of knowledge on fatigue in patients with deteriorated iron metabolism.

Vascular aging is a physiological, multifactorial process that involves every type of vessel, from large arteries to microcirculation. This manifests itself as impaired vasomotor function, altered secretory phenotype, deteriorated intercellular transport function, structural remodeling, and aggravated barrier function between the blood and the vascular smooth muscle layer. Iron disorders, particularly iron overload, may lead to oxidative stress and, among other effects, vascular aging. The elevated transferrin saturation and serum iron levels observed in iron overload lead to the formation of a non-transferrin-bound iron (NTBI) fraction with high pro-oxidant activity. NTBI can induce the production of reactive oxygen species (ROS), which induce lipid peroxidation and mediate iron-related damage as the elements of oxidative stress in many tissues, including heart and vessels’ mitochondria. However, the available data make it difficult to precisely determine the impact of iron metabolism disorders on vascular aging; therefore, the relationship requires further investigation. Our study aims to present the current state of knowledge on vascular aging in patients with deteriorated iron metabolism.

Background: Major adverse cardiovascular events (MACE) constitutes the main cause of morbidity and mortality in ischemic heart failure (HF) patients. The prognostic value of the autonomic nervous system (ANS) parameters and microvolt T-wave alternans (MTWA) in this issue has not been identified to date. The aim herein, was to assess the usefulness of the abovementioned parameters in the prediction of MACE in HF patients with left ventricular systolic dysfunction of ischemic origin. Methods: Baroreflex sensitivity (BRS), heart rate variability (HRV), MTWA and other well-known clinical parameters were analyzed in 188 ischemic HF outpatients with left ventricular ejection fraction (LVEF) ≤ 50%. During 34 (14–71) months of follow-up, 56 (30%) endpoints were noted. Results: Univariate Cox analyses revealed BRS (but not HRV), MTWA, age, New York Heart Association III, LVEF, implantable cardioverter-defibrillator presence, use of diuretics and antiarrhythmic drugs, diabetes, and kidney insufficiency were defined as significant predictors of MACE. Pre-specified cut-off values for MACE occurrence for the aforementioned continuous parameters (age, LVEF, and BRS) were: ≥ 72 years, ≤ 33%, and ≤ 3 ms/mmHg, respectively. In a multivariate Cox analysis only BRS (HR 2.97, 95% CI 1.35–6.36, p < 0.006), and LVEF (HR 1.98, 95% CI 0.61–4.52, p < 0.038) maintained statistical significance in the prediction of MACE. Conclusions: BRS and LVEF are independent of other well-known clinical parameters in the prediction of MACE in patients with HF of ischemic origin and LVEF up to 50%. BRS ≤ 3 ms/mmHg and LVEF ≤ 33% identified individuals with the highest probability of MACE during the follow-up period. Background: Major adverse cardiovascular events (MACE) constitutes the main cause of morbidity and mortality in ischemic heart failure (HF) patients. The prognostic value of the autonomic nervous system (ANS) parameters and microvolt T-wave alternans (MTWA) in this issue has not been identified to date. The aim herein, was to assess the usefulness of the abovementioned parameters in the prediction of MACE in HF patients with left ventricular systolic dysfunction of ischemic origin. Methods: Baroreflex sensitivity (BRS), heart rate variability (HRV), MTWA and other well-known clinical parameters were analyzed in 188 ischemic HF outpatients with left ventricular ejection fraction (LVEF) ≤ 50%. During 34 (14–71) months of follow-up, 56 (30%) endpoints were noted. Results: Univariate Cox analyses revealed BRS (but not HRV), MTWA, age, New York Heart Association III, LVEF, implantable cardioverter-defibrillator presence, use of diuretics and antiarrhythmic drugs, diabetes, and kidney insufficiency were defined as significant predictors of MACE. Pre-specified cut-off values for MACE occurrence for the aforementioned continuous parameters (age, LVEF, and BRS) were: ≥ 72 years, ≤ 33%, and ≤ 3 ms/mmHg, respectively. In a multivariate Cox analysis only BRS (HR 2.97, 95% CI 1.35–6.36, p < 0.006), and LVEF (HR 1.98, 95% CI 0.61–4.52, p < 0.038) maintained statistical significance in the prediction of MACE. Conclusions: BRS and LVEF are independent of other well-known clinical parameters in the prediction of MACE in patients with HF of ischemic origin and LVEF up to 50%. BRS ≤ 3 ms/mmHg and LVEF ≤ 33% identified individuals with the highest probability of MACE during the follow-up period.

Background: Hereditary hemochromatosis (HH) is a genetic disease that leads to increased iron accumulation in several organs. Cardiomyocytes are highly susceptible to this damage owing to their high iron uptake, and cardiovascular complications account for 1/3 of the deaths in the natural course of HH. Additionally, excess iron intake and associated oxidative stress may accelerate the aging of the cardiovascular system, regardless of the age of patients with HH. We aimed to investigate the role of standard and speckle-tracking echocardiography (STE) in revealing heart differences in patients with HH considering the disease stage and the patient age.Methodology: Consecutive patients with HH (n = 58) without heart pathologies (except hypertension) and 29 age- and sex-matched healthy individuals underwent echocardiography. Patients were compared according to the time since HH diagnosis (the recently diagnosed HH group [31 patients] with diagnosed HH for less than 6 months and had no more than one venesection; the medium group [11 patients] with diagnosed HH between 6 and 24 months; and the long-lasting group [16 patients] with diagnosed HH for more than 2 years) and the quartile contribution of their age.Results: Standard echocardiography revealed differences in diastolic parameters between patients with HH and controls, which were the most prominent between healthy and long-lasting HH patients. Regarding systolic function, left ventricular ejection fraction was lower in HH patients, with the most evident differences between the healthy and recently diagnosed HH patients. STE revealed additional differences in systolic parameters, with LV rotation the worst in recently diagnosed patients and its increase in patients with medium and long-lasting HH. Significantly worse peak systolic longitudinal strain values were observed in all patients with HH. Analyses of the results according to the age quartiles of patients with HH revealed that some changes ocurred earlier than expected according to age.Conclusions: Echocardiography can reveal possible heart damage in HH patients at different stages of the disease and highlight potential features of accelerated myocardial aging in these patients.

Background: Hereditary hemochromatosis (HH) is a genetic condition with fatigue as an essential but not precisely assessed symptom. While some well-specified scales for fatigue assessment in some pathologies exist, data on their usefulness in HH need to be collected. This research aimed to evaluate fatigue in HH using the Fatigue Assessment Scale (FAS), Fatigue Severity Scale (FSS), and Chalder Fatigue Scale (CFQ). Methodology: Seventy-nine HH patients underwent a questionnaire containing items about detailed medical history and the FAS, FSS, and CFQ scales. Twenty-five sex- and age-matched healthy persons constituted the control group (controls); additionally, thirty blood donors (donors) were compared. Results: The fatigue indices were significantly worse in the HH patients than in the controls and donors (HH vs. controls p-value: FAS = 0.003, FSS < 0.001, and CFQ = 0.003; HH vs. donors p-value: FAS = 0.025, FSS < 0.001, and CFQ = 0.041). There were no differences between the severity of fatigue and the specific genotype or the age of the patients. The HH women presented more severe fatigue than the men. High internal consistency and reliability for each scale were revealed: the Cronbach alpha values were as follows: FAS 0.92, FSS 0.95, and CFQ 0.93. Additionally, the construct validity and factorial validity of the implemented scales were confirmed. Conclusions: The HH patients exhibited significantly worse fatigue across all the scales. The FAS, FSS, and CFQ are simple and reliable diagnostic tools for assessing and quantifying fatigue for clinical and research purposes.