Robert Whitehill, MD, a pediatric cardiologist at Children’s Healthcare of Atlanta Cardiology (formerly Sibley Heart Center Cardiology), answers some common questions about cardiomyopathy, a rare but dangerous disease of the heart muscle that affects approximately one out of 100,000 children under the age of 18. Cardiomyopathy is a leading cause of heart transplants in children.

What is cardiomyopathy?

Cardiomyopathy is a broad term that encompasses many different diagnoses. When broken down to its most basic form, cardiomyopathy is a long word that means “heart muscle disease.” This disease of the heart muscle makes it harder for the heart to pump blood to the rest of the body.

What’s different about a heart with cardiomyopathy?

People with cardiomyopathy have hearts that are sometimes bigger or stiffer than they should be, and this can change how the heart functions. Some hearts are of normal size, but the muscle does not work properly. If you have cardiomyopathy, your heart may not be able to pump blood to the lungs and to the rest of the body as it should.

What are the different types of cardiomyopathies?

The three most common types of cardiomyopathies that can affect both children and adults include dilated, hypertrophic and restrictive. 

• Dilated cardiomyopathy occurs when the pumping ability of the heart declines and the heart becomes enlarged, or dilated, and can’t effectively pump blood.
• Hypertrophic cardiomyopathy involves abnormal thickening of the heart muscle, making it harder for the heart to work. This also mostly affects the left ventricle. Some people with this type of cardiomyopathy have a family history of the disease.
• Restrictive cardiomyopathy occurs when the heart muscle becomes stiff, so it can’t expand and fill with blood between heartbeats.

What does it feel like to have cardiomyopathy? 

The first clue that a cardiomyopathy may be present often comes from parents who notice that their child is having a hard time keeping up with peers or siblings. Kids may experience shortness of breath, syncope or fainting during activity, extreme fatigue, irregular heartbeat or legs and feet that swell as if they are filled with water. Babies with cardiomyopathy may not grow well because of difficulty feeding. Some cases may be uncovered incidentally through an abnormal EKG.

How do doctors check for cardiomyopathy?

They check by listening to the heart, looking at pictures of the heart and looking at the heartbeat. An electrocardiogram (EKG) is an important first step in diagnosing cardiomyopathy. Depending on the type, further testing may include an echocardiogram, a stress test, wearing a heart rate monitor or a cardiac MRI to observe the structure of the heart. Some kids will need a cardiac catheterization or an electrophysiological study.

 How do you get cardiomyopathy?

The causes of cardiomyopathies can be genetic, although some types can be related to an infection of the heart, a medication or because of chemotherapy in early childhood. The cause of some cardiomyopathies is unknown. It is important to talk to a doctor who can help find out the reason for the cardiomyopathy.

 How is cardiomyopathy treated?

Treatments include medications, surgically implanted devices, heart surgery or, in severe cases, a heart transplant — depending on which type of cardiomyopathy a patient has and how serious it is. The doctors at Children’s collaborate with the Advanced Cardiac Therapies team within the Children’s Heart Center to treat patients using innovative technologies for advanced heart failure, including medical therapies, mechanical support and heart transplantation.

How can I take care of myself or my child?

Continuing to see the cardiologist regularly is an important part of staying well.  Having a “heart healthy” diet that is low in sugar and fat is also important. Talk to your doctor about what exercises you can do to be active and whether any medications or other recommendations can help. Educating yourself about cardiomyopathy is also an important step!

For more resources about cardiomyopathy, please visit:

• https://www.choa.org/medical-services/heart-center/cardiomyopathy
• Hypertrophic Cardiomyopathy Association
• Children’s Cardiomyopathy Foundation

For more information about Children’s Healthcare of Atlanta Cardiology and our pediatric cardiology specialists, click here.