Abstract
Hereditary hemochromatosis (HH) is a common genetic metabolic disorder characterized by excessive iron absorption and elevated serum iron levels, which accumulate in various organs, such as the heart, pancreas, gonads, and damage these organs. There are only a few articles and clinical studies describing the characteristics of cardiac involvement in HH along with the significance of early diagnosis and management in preventing complications. In this review article, we have reviewed multiple pieces of literature and gathered available information regarding the subject. We compiled the data to investigate the importance of early detection of symptoms, regular monitoring, and prompt management with strict adherence to reverse or prevent complications. This article has reviewed different aspects of cardiac hemochromatosis, such as pathogenesis, clinical presentation, diagnosis, and management. Recognition of early symptoms, diagnosis of cardiac involvement with various modalities, and implementation of early treatment are essentially the foundation of better outcomes in HH.
Highlights
BackgroundHH is an inherited, multi-systemic, progressive metabolic disease characterized by systemic iron overload and iron deposition in various visceral organs [1]
It is evident from the review article that, relatively, there are few studies regarding the emphasis on the early recognition and treatment of cardiac hemochromatosis
HH can present as iron overload cardiomyopathy, arrhythmias, pulmonary hypertension, and congestive heart failure (CHF)
Summary
HH is an inherited, multi-systemic, progressive metabolic disease characterized by systemic iron overload and iron deposition in various visceral organs [1]. After treatment with multiple phlebotomies, subjects have constantly elevated oxidative stress, which explains the persistence of arrhythmia in patients with near-normal serum iron levels [46] These abnormalities include atrial tachyarrhythmias, premature ventricular beats, nodal block, and ventricular tachycardia, among which supraventricular arrhythmia is the most common cardiac rhythm disorder [16,47]. High cardiac iron accumulation can occur in the setting of low levels of serum ferritin, suggesting no significant correlation between serum ferritin levels and severity of myocardial involvement [55] These markers are helpful for screening purposes. Palka et al tested a hypothesis in their study on 18 HH patients that LV diastolic filling indexes are helpful in early detection of cardiac involvement in HH and used TDI as a diagnostic imaging technique. Beta-blockers decrease myocardial oxygen consumption and reduce mortality in the long term
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