Signs of Heart Complications in Friedreich Ataxia

About 75 percent of people living with Friedreich ataxia (FA or FDRA) eventually develop heart problems. In fact, heart failure is the most common cause of death among people with this condition. With heart failure, the heart doesn’t pump blood as well as it should to meet the body's needs for oxygen and nutrients.

Heart problems with Friedreich ataxia can range from mild to serious. You may not notice any symptoms, and your doctor may only detect them with special tests.

If Friedreich ataxia is already affecting your balance, coordination, and walking, getting regular tests for heart problems may feel like a lot. However, finding heart problems early and getting proper treatment is an important part of staying as healthy as possible with Friedreich ataxia.

How Friedreich Ataxia and Heart Disease Are Connected

In Friedreich ataxia, genetic changes keep the body from making enough of a protein called frataxin. Mitochondria are the parts of cells that make energy. Without enough frataxin, mitochondria cannot work the way they should. Over time, this can weaken the heart muscle.

Heart issues can show up in children or young adults diagnosed with Friedreich ataxia, although they’re more common in older people. People with more severe genetic changes are also more likely to have serious heart disease.

People with Friedreich ataxia are more likely to develop cardiomyopathy, which is an enlarged heart muscle. When this muscle is too big, there’s less space inside the heart for blood. This makes it harder for the heart to pump enough blood throughout the body.

This heart condition is often called hypertrophic cardiomyopathy. Some doctors say this may not be the best term for heart issues related to Friedreich ataxia, but your cardiologist may still use it.

An enlarged heart muscle can also cause problems with your heart’s rhythm. It may beat too fast, too slow, or not adjust as your body’s needs change. This is called an arrhythmia.

Symptoms of Heart Disease To Watch For

When it comes to heart disease, you and your care team should work together to monitor your condition. Tell your doctor about any symptoms you notice.

The symptoms of an enlarged heart muscle and arrhythmia in people with Friedreich ataxia are the same as when these heart problems are caused by other conditions.

The most common issues are:

• Fatigue — You might feel weaker or more tired than usual. The fatigue can feel extreme, especially if you haven’t experienced it before.
• Shortness of breath — You might feel like you just can’t get enough air, no matter what you do.
• Chest pain — If your heart is working extra hard, you may have pain or discomfort in your chest area.
• Palpitations — Sometimes, you can feel your heart beating faster than usual. It may feel like it’s pounding in your chest or fluttering, like wings.
• Blood pooling in the lower body — If your heart cannot pump blood well enough, fluid may build up in your feet, ankles, and lower legs.
• Lightheadedness or fainting — If your brain isn’t getting enough oxygen via your blood, you might feel dizzy and lightheaded. If it becomes severe, you may pass out or faint.

If you have any of these symptoms, follow up with a healthcare provider as soon as you can. You should also reach out if you have these symptoms and they suddenly get worse or if you start having them more frequently.

Signs of Heart Disease in Friedreich Ataxia

During regular testing, your doctor will also look for signs of heart problems.

Your cardiologist will likely order tests to check your heart on a regular basis. How often you have these tests, and even which tests you have, will depend on how severe your Friedreich ataxia is, whether you already have heart complications, and other factors.

Many tests need to be done at least once a year, but your doctor may order them more often depending on your condition.

Checking your heart over time helps doctors see what is changing. This can help them understand how Friedreich ataxia is affecting your body and decide which treatments may help you stay as healthy as possible.

Electrocardiogram

An electrocardiogram (ECG or EKG) is a test that looks at the electrical signals in your heart and checks for arrhythmias. Most people with Friedreich ataxia will have atypical ECG results, even if they aren’t experiencing cardiovascular symptoms.

There are several different abnormalities or results your doctor might see on this test, and they can tell you what they are and what they mean for your overall heart health.

Echocardiogram

An echocardiogram is a test that uses ultrasound technology to look at the structure and function of your heart. This test can show many changes caused by an enlarged heart muscle.

Heart Imaging

If your doctor needs a closer look at your heart, they may order a cardiac magnetic resonance test. If you’ve had an MRI before, this is an MRI for your heart. These images allow your cardiologist to see exactly how thick the muscle of your heart is and check for scarring.

Your Friedreich Ataxia Care Team and Heart Disease

When you live with Friedreich ataxia, it’s important to have a team of healthcare professionals who work with different aspects of the condition. This team will likely include a cardiologist, or heart specialist, in addition to your neurologist and other care professionals.

Your cardiologist can help you understand whether heart disease affects your prognosis. You can ask if they think dietary changes or getting more physical activity will help your overall heart health. Make sure you stick to the schedule of heart tests and follow-up appointments recommended.

Your doctor can also keep you updated on the latest research regarding Friedreich ataxia and your heart, which is still being studied.

Remember, getting an accurate diagnosis and effective treatment for any cardiovascular issues can help improve your overall outcome. Working with a cardiologist you trust can help you find the best treatment.

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