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.

Atrial fibrillation (AF) is an important arrhythmia in hypertrophic cardiomyopathy (HCM). We aimed to explore whether a complex evaluation of the left ventricle (LV) using modern echocardiography techniques, in addition to the left atrium (LA boosts), could improved the probability of AF diagnosis. Standard echocardiography, 2D and 3D speckle tracking, were performed for LA and LV evaluation in HCM patients and healthy volunteers. Of 128 initially qualified HCM patients, 60 fulfilled included criteria, from which 43 had a history of AF, and 17 were without AF. LA volume index and peak strain, LV ejection fraction, and strains were significant predictors of AF. In addition, 2D global longitudinal strain (GLS) for LV at cut off −16% turned out to be the most accurate predictor of AF (OR 48.00 [95% CI 2.68–859.36], p = 0.001), whereas the combination of LA peak strain ≤ 22% and LV GLS ≥ −16% had the highest discriminatory power (OR 76.36 [95% CI 4.13–1411.36], p = 0.001). AF in HCM patients seems to be LA as well as LV disease. Revealing lower strain for LV, in addition to lower LA strain, may have an important impact on accurate characteristics of HCM patients with AF history.

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.

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