Hereditary Hemochromatosis: A Cardiac Perspective

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.

Keywords: cardiac arrhythmia; cardiac hemochromatosis; hereditary hemochromatosis; iron overload cardiomyopathy; primary iron overload.

Figure 1. Schematic representation of iron metabolism and regulation

DMT-1: divalent metal transporter-1; TFR-2: transferrin receptor-2

Figure 2. The spectrum of iron overload cardiomyopathy

ROS: reactive oxygen species; ECC: excitation-contraction coupling; HF: heart failure; HTN: hypertension