From the Guidelines
Hemochromatosis can cause significant cardiac complications, including cardiomyopathy, heart failure, arrhythmias, and sudden cardiac death, due to iron deposition in heart tissue, as evident in a recent study published in the Journal of Hepatology 1. The primary cardiac side effect of hemochromatosis is cardiomyopathy, which typically presents as dilated or restrictive heart disease. Patients may develop heart failure with symptoms including shortness of breath, fatigue, and reduced exercise tolerance.
- Arrhythmias are also common, particularly atrial fibrillation, which affects patients with iron overload cardiomyopathy.
- Other cardiac manifestations include conduction abnormalities and, in severe cases, sudden cardiac death. Iron deposition damages cardiac myocytes through oxidative stress, leading to cellular dysfunction and fibrosis.
- Early detection and treatment of hemochromatosis with regular phlebotomy or chelation therapy can prevent or reverse cardiac complications if initiated before significant heart damage occurs.
- Cardiac function should be monitored regularly with echocardiography and electrocardiograms in hemochromatosis patients, particularly those with elevated ferritin levels, as this indicates higher risk for cardiac involvement, as recommended in the EASL clinical practice guidelines on haemochromatosis 1. A structured patient interview, physical examination, and cardiac investigations should be reasonably guided by the overall assessment of age at diagnosis, clinical manifestations, and cofactors of iron overload, and cardiologist consultation is recommended in the presence of signs of possible cardiac involvement 1.
From the Research
Cardiac Side Effects of Hereditary Hemochromatosis (HH)
The cardiac side effects of hereditary hemochromatosis (HH) include:
- Dilated cardiomyopathy with dilated ventricles, reduced ejection fraction, and reduced fractional shortening 2
- Deposition of iron in the entire cardiac conduction system, especially the atrioventricular node 2
- Diastolic dysfunction, increased susceptibility to arrhythmias, and late-stage dilated cardiomyopathy 3, 4
- Heart failure, which is the most frequent manifestation of cardiac involvement 5
- Reduced left ventricular distensibility due to iron overload of the myocytes 5
Diagnosis of Cardiac Hemochromatosis
Diagnosis of cardiac hemochromatosis can be established through:
- Elevated transferrin saturation (>55%) and elevated serum ferritin (>300 ng/mL) 4
- Genetic testing for mutations in the HFE gene and other proteins 4
- Comprehensive 2D and Doppler echocardiography to evaluate systolic and diastolic function 4
- Cardiac magnetic resonance imaging with measurement of T2* relaxation times to quantify myocardial iron overload 4, 6
Treatment of Cardiac Hemochromatosis
Treatment of cardiac hemochromatosis includes:
- Therapeutic phlebotomy, which is the therapy of choice in nonanemic patients with cardiac hemochromatosis 2, 4, 6
- Iron chelation therapy, which is an alternative option for patients with anemia or severe congestive heart failure 2, 3, 6
- Other potential therapies, such as erythrocytapheresis, calcium channel blockers, and hepcidin-targeted approaches, which require further research to understand their benefits on cardiac function 6