Is There a Link Between DMD and Heart Disease?

Updated on October 7, 2024

  • Heart disease is common in people living with Duchenne muscular dystrophy (DMD), a nerve and muscle disease that causes muscle weakness.
  • In people with DMD, dilated cardiomyopathy (DCM) is the most common form of heart disease — the heart ventricles weaken, forcing the heart to work harder.
  • Taking early action and sticking to a treatment plan can help extend a person’s life expectancy and improve their quality of life.

Duchenne muscular dystrophy is a rare neuromuscular disease that causes muscle weakness. The most common symptoms of DMD are muscle atrophy (wasting) and mobility issues. When people hear this, some wonder, “Does muscular dystrophy affect the heart?” DMD does affect the heart muscle, increasing a person’s chances of developing heart disease.

Most people with DMD will develop heart disease at some point. Fortunately, the condition can be managed with medications that help take stress off the heart. In this article, we’ll discuss how DMD and heart disease are related, along with how heart disease is diagnosed and managed.

How Does Duchenne Muscular Dystrophy Affect Muscles?

People with DMD have a mutation (variation) in the gene that gives the body instructions for making a protein called dystrophin. This protein typically works with other proteins to give muscle fibers strength, allowing them to contract (tighten) and relax. Specifically, dystrophin acts as an anchor to hold muscle cells together and protects them from being injured. It’s found in both the heart and skeletal muscles that control movement.

In people with DMD, the dystrophin gene can’t provide the right instructions for making the protein. This means that muscle cells in the heart can’t make enough dystrophin. As a result, they can’t contract and relax properly, leading to heart disease and other DMD symptoms.

Heart Disease and Duchenne Muscular Dystrophy

The most common type of Duchenne muscular dystrophy heart disease is dilated cardiomyopathy. To better understand how DCM develops, it’s important to learn about how the heart works.

The heart is made of four chambers. The two top chambers are called atria, and the two bottom chambers are called ventricles. These chambers work together to pump oxygen-rich blood from the lungs to the rest of the body. Specifically, the left ventricle is the heart’s main pumping chamber.

In dilated cardiomyopathy, the ventricles begin to stretch out and become thinner, losing their ability to contract. As a result, the heart has a harder time pumping blood to the other organs. In people with DMD, the heart muscle is stretched and weakened because there isn’t enough dystrophin protein to hold the muscle cells together.

In dilated cardiomyopathy, as illustrated above right, the ventricles stretch out and become weaker. (Adobe Stock)

Eventually, the heart’s muscle cells are replaced by scar tissue (known as myocardial fibrosis). This makes it harder for the heart to pump blood properly. There may also be issues with sending electrical signals throughout the heart muscle to make it pump. These conduction issues lead to even more dysfunction.

Risk of Heart Disease in Duchenne Muscular Disease

Since dystrophin is important for proper heart muscle function, nearly everyone with DMD will eventually have heart disease. It can develop at any age, but symptoms typically appear around 14 to 15 years old. By 18, most people with DMD develop dilated cardiomyopathy.

Studies have also found that up to 70 percent of people with a milder form of DMD known as Becker muscular dystrophy develop dilated cardiomyopathy. It tends to arise later in people with Becker muscular dystrophy compared to those with DMD, typically between ages 30 and 40.

DCM symptoms to look out for include:

  • Fatigue
  • Shortness of breath
  • Swelling caused by fluid buildup in the feet and legs
  • Palpitations (fast heartbeat)
  • Arrhythmia (abnormal heartbeat)

DMD and Heart Failure

Left untreated, DMD can eventually lead to heart failure. This complication is diagnosed when the heart can no longer pump blood throughout the body, leading to worsening symptoms of dilated cardiomyopathy. Be sure to talk with a health care provider or cardiology specialist if you notice DCM symptoms are getting worse as time goes on.

Heart failure is one of the most common causes of death for people living with DMD. By taking early action and getting the right treatment, you can improve the quality of life for your child or loved one and extend their life expectancy.

Diagnosing Heart Disease in Duchenne Muscular Dystrophy

For someone living with Duchenne muscular dystrophy, cardiomyopathy and heart failure symptoms are often most noticeable during activities like walking or climbing stairs. However, these symptoms can be overlooked because many people with DMD already have mobility issues that affect how they walk. By the time heart-related symptoms are noticed, heart disease may have progressed, causing lasting damage.

It’s recommended that children with DMD have yearly follow-ups to check their cardiac function. Health care providers use several imaging tests to measure how well their heart beats and pumps blood.

Electrocardiogram

An electrocardiogram (ECG) measures the heart’s electrical signals along with heart rate. This test looks for an abnormal heart rhythm caused by heart disease or Duchenne muscular dystrophy heart failure.

During an ECG, a health care provider attaches 12 electrodes (sensors) to different areas of the chest and arms using sticky patches. The electrodes measure electrical signals sent through the cardiac muscle that tell it to beat. A computer reads the signals and displays them as waves that tell a doctor whether the heart is beating properly.

Echocardiogram

An echocardiogram measures how well blood flows through the heart. It uses sound waves or ultrasound technology to create pictures of the heart and valves (muscle flaps that control the direction of blood flow). Echocardiography measures how well the left ventricle pumps blood with each heartbeat. This is known as left ventricular ejection fraction (LVEF). A low LVEF measurement is often a sign of DCM.

During an echocardiogram, a health care professional who specializes in ultrasound places a wand or transducer onto the chest over the heart. The transducer sends sound waves into the body, which bounce off the heart and other structures. Those waves are used to produce pictures of the heart and measure blood flow.

Cardiac Magnetic Resonance Imaging

One downside of echocardiograms is that they can’t always take clear pictures, especially in people with DMD. Instead, doctors may opt for magnetic resonance imaging (MRI) technology. A cardiac MRI uses strong magnets and radio waves to take extremely detailed images of the heart.

Cardiac MRIs are the preferred imaging test for diagnosing heart disease and heart failure in people with DMD. This is because the test provides more information on ventricular function than an echocardiogram can.

Treating Heart Disease With Duchenne Muscular Dystrophy

If your child or loved one is diagnosed with heart disease, their doctor will develop a treatment plan to keep their heart healthy for as long as possible. There currently aren’t any medications specifically for treating DCM associated with DMD.

Instead, a doctor will prescribe common heart disease treatments to take the extra stress off the heart. A cardiologist may work together with the neurology team to make sure they find the best possible treatment. Most children with DMD start taking medications by around age 10 to help prevent disease progression, even if their test results are normal.

ACE inhibitors and angiotensin receptor blockers (ARBs) work by blocking the effects of the hormone angiotensin. These medications help relax blood vessels, making it easier for the heart to pump blood. ACE inhibitors are typically prescribed to people with DMD by age 10 or when there are early signs of myocardial fibrosis.

Other medications used to manage heart disease include beta-blockers, which help relax the heart muscle and slow the heart rate so the heart can beat more efficiently. Diuretics, including aldosterone antagonists, help remove extra fluid from the body to lower blood pressure.

Sticking to a DMD Treatment Plan

It’s also important to closely follow the DMD treatment plan. Common treatments include corticosteroids and exon-skipping therapies.

Many of the available exon-skipping therapies are being studied for treating cardiac dysfunction in DMD as well. These therapies help correct certain gene mutations to increase dystrophin levels. As a result, muscle cells in the heart could make more dystrophin to improve the symptoms of cardiac disease.

Talk With Others Who Understand

On myDMDcenter, people with Duchenne muscular dystrophy and their loved ones come together to gain a new understanding of DMD and share their stories with others who understand life with DMD.

Has your child or loved one with DMD been diagnosed with heart disease? Share your experiences in the comments below.

Updated on October 7, 2024
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Has Your Child Or Loved One With DMD Been Diagnosed With Heart Disease? Share Your Experiences In The Comments Below.

July 27, 2023 by myDMDcenter
Luc Jasmin, M.D., Ph.D., FRCS (C), FACS is a board-certified neurosurgery specialist. Learn more about him here.
Emily Wagner, M.S. holds a Master of Science in biomedical sciences with a focus in pharmacology. She is passionate about immunology, cancer biology, and molecular biology. Learn more about her here.

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