Care for the Heart

The information on this page represents the recommended standard of care for Duchenne muscular dystrophy. Most of the care recommendations also apply to Becker muscular dystrophy, but at older ages. Most, but not all, people with Duchenne are males—but the care recommendations apply to both males and females with Duchenne.

If you don’t understand any of the medical terms and concepts, ask your healthcare providers. Take notes and ask questions during your clinical visits.

Heart Facts to Remember

  1. The heart is a muscle too and is affected before any heart symptoms appear (cardiomyopathy).
  2. People with Duchenne may be asked to start medications before symptoms of heart problems appear.
  3. You should visit a cardiologist at least once a year starting from the time of diagnosis (more often if any problems are seen).
  4. Keep a copy of your latest heart tests to show all of the healthcare providers who care for you.

Common Heart Issues

People living with Duchenne should start seeing a cardiologist, at least once every year, from diagnosis.

Cardiomyopathy

The term cardiomyopathy means “heart muscle disease.” Because there is a lack of dystrophin in the heart muscle, all people born with Duchenne are also born with cardiomyopathy. People can live a long time with heart failure, especially if it is managed correctly with medication. Most people with Duchenne have no symptoms of heart failure. All people with Duchenne should see a cardiologist (a doctor who specializes in caring for the heart) from the time of diagnosis. If you have one or more of the following symptoms, call your cardiologist:

  • More tired than usual
  • Weight loss
  • Vomiting
  • Belly pain
  • Not sleeping well
  • Trouble doing normal daily activities
  • Chest pain

Recommended Care

The cardiologist will watch for signs of the development of heart failure (symptoms that show that the heart is having difficulty meeting the demands of the body). Cardiologists have several tools at their disposal, including EKG (electrocardiogram), 24-hour Holter monitor (a tiny machine with electrodes that records your EKG for 24 hours), echocardiogram, and cardiac MRI.

Below is the recommended standard care for the heart. You should visit your cardiologist at least annually starting at the time of diagnosis.

Cardiac Imaging

Commonly ordered tests to assess the heart include a cardiac MRI or echocardiogram and electrocardiogram (ECG), which both are used to evaluate cardiac muscle abnormalities or fibrosis (scarring of the heart muscles). The doctor may also order other tests such as a Holter monitor, which is a portable monitor that is worn for 24 hours (or longer). The Holter monitor is used to watch your heart rate and rhythm while you are doing normal activity.

How often should you have your heart checked?

  • At diagnosis
    Meet with a cardiologist at diagnosis. It is recommended that you have a baseline ECG and echocardiogram.
  • At least every year in patients without cardiac symptoms or abnormal imaging
    Yearly tests include an ECG, as well as a heart imaging test (such as an echocardiogram or cardiac MRI). It is currently recommended that heart medications be started by age 10, even if your tests are normal and there are no symptoms.
  • If symptoms or abnormal imaging results
    Your doctor may recommend more frequent visits in addition to medications.
  • Before surgery
    It is recommended to have a cardiac evaluation within four months of major surgery, such as scoliosis surgery (to straighten the spine).

Consider using medication

*It is important to let your doctor know if you think you may be having side effects from heart medication.

  • ACE-Inhibitors and Angiotensin Receptor Blockers
    These are medications that end in “pril” (lisinopril, captopril, enalapril, etc.), and are used primarily to lower blood pressure. ACE-inhibitors work to make blood vessels leading from the heart open wider. This allows the heart to pump blood throughout the body using less pressure. These should be started with the first signs of cardiac fibrosis or dysfunction, or by age 10 even if your tests are normal.
  • Beta Blockers
    These help the heart to relax and beat more slowly, so it has more time to fill and pump more completely and efficiently.
  • Diuretics
    These help the body remove extra water, so that there is less blood volume for the heart to pump.
  • Antimineralcorticoids (Eplerenone, Spironolactone, Aldactone)
    These are medications that help lower blood pressure by blocking the action of aldosterone. Aldosterone increases reabsorption  of sodium and water, which increases the volume of blood the heart has to pump. The more blood the heart has to pump, the more pressure it needs to pump blood from the heart to the body.

Cardiac Care for Carriers

Women who are carriers of Duchenne should talk to their medical providers about their own health. It is estimated 30-50% of carriers may develop heart problems, such as cardiomyopathy. It is recommended that all female carriers have an evaluation with a cardiologist and have an echocardiogram (heart ultrasound) performed, first in their late teens/early 20s and, if normal, repeated every 3-5 years.

Publications

In 2015, PPMD and the National Heart Lung and Blood Institute convened a meeting evaluating Contemporary Issues in Duchenne Cardiology. The results from that meeting informed the CDC Cardiac Care recommendations above. The summary of that meeting was published, and can be found here.

In addition, a second meeting discussing the progression of Duchenne cardiomyopathy presenting with chest pain and troponin elevation was convened in 2016. Troponin is an enzyme that is found cardiac muscle. When the cardiac muscle is damaged, troponin is released into the bloodstream.  An elevated troponin level in your blood means that your cardiac muscle is being damaged. A case study of patients from one institution was published and can be found here (28984614). A discussion of this phenomenon was presented at the 2017 PPMD Connect Conference.