Cardiac Hemochromatosis

Cardiac hemochromatosis, also called iron overload cardiomyopathy, occurs when iron builds up inside heart muscle cells. The body has no natural way to get rid of excess iron, so iron that keeps coming in is stored in organs such as the liver, heart, pancreas, and hormone glands. In the heart, unbound iron triggers cell damage through oxidation. As a result, the heart muscle first becomes stiff, then can weaken and enlarge, and its electrical system is disrupted. This condition belongs to the group covered on the Infiltrative Cardiomyopathy page.

Two Paths to Iron Overload

The first path is hereditary hemochromatosis. A gene change, usually in the HFE gene, makes the intestine absorb more iron from food than the body needs. This form is common in people of northern European descent and less common in Asia. Symptoms usually appear after age 40 in men and later in women, because menstruation removes some iron. The second path is secondary iron overload, mainly from repeated blood transfusions in thalassemia major, other anemias, or bone marrow disorders. Each unit of blood carries a lot of iron, so without iron-binding medicines, iron overload in the heart can develop at a young age. In Indonesia, secondary iron overload is seen largely in people with thalassemia.

Why Early Testing Matters

Iron in the heart often builds up without symptoms for years, and pumping function only drops after a considerable amount has accumulated. Cardiac MRI with the T2* technique can measure the iron level in the heart muscle before pumping function declines. In thalassemia, using T2* MRI to guide iron-binding treatment has been associated with lower rates of heart failure and heart-related death. When treated early, heart function can often recover partly or fully.

Principles of Treatment

Treatment has two parts: reducing iron and managing its effects on the heart. In hereditary hemochromatosis, blood is removed regularly (phlebotomy) in a way similar to blood donation. In iron overload from transfusions, your doctor prescribes iron-binding medicines (chelation), and for severe buildup in the heart, your doctor may combine two types of chelation medicines. At the same time, your doctor treats heart failure and rhythm problems.

Testing starts with blood tests. High transferrin saturation shows that too much iron is circulating, and high ferritin shows that iron stores are increasing. However, the iron level in the blood does not always reflect the iron level in the heart. That is why MRI with the T2* technique is used to measure iron in the heart, and liver MRI to measure iron in the liver.

Echocardiography and an ECG assess the effects on the heart's pumping and rhythm. When hereditary hemochromatosis is suspected, HFE gene testing confirms the diagnosis, and your doctor may recommend testing your brothers and sisters. A liver or heart biopsy is now rarely needed. For people with transfusion-dependent thalassemia, the AHA consensus statement recommends regular cardiac T2* MRI starting in childhood, to find iron buildup before heart function declines.

Go to the emergency room right away if you have severe shortness of breath, fainting, or a very fast, pounding heartbeat. Make an appointment with a cardiologist if:

• You have thalassemia or anemia with regular transfusions and have never had a cardiac T2* MRI
• Your ferritin or transferrin saturation is high on a blood test
• You have been diagnosed with hereditary hemochromatosis and start to feel short of breath, have palpitations, or tire easily
• A brother, sister, or parent has hemochromatosis
• Heart symptoms appear together with diabetes, liver disease, or finger joint pain without a clear cause