Care for the heart has long been a priority for PPMD. Over the past several years, PPMD’s Cardiac Initiative has given rise to:
Duchenne is a muscle disease, so why do clinicians and researchers care so much about the heart? Because the heart is a muscle too! Heart health is critical and the updated Care Considerations include tools for lifelong cardiac evaluation and management for people living with Duchenne, as well as recommendations for carriers that will help keep their hearts healthy, too.
Heart Evaluation & Management
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 living with Duchenne should start seeing a cardiologist, at least once every year, from diagnosis. 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:
At diagnosis, the cardiologist should collect family history and do an initial screen of the heart. An EKG will give the cardiologist an evaluation of the rate (how fast) and rhythm (how regularly the heart beats) of the heart. If there is any concern about heart rate or rhythm, or if the cardiologist just wants to get a screen of heart rate and rhythm over a longer period of time, a 24 hour Holter monitor will be ordered.
An echocardiogram or cardiac MRI will get images of the heart, showing the structure and function of the heart. The cardiac MRI is able to give a more exact image of the heart and, with contrast (given through an IV during the MRI), is able to show if there is any fibrosis (scar tissue) in the heart muscle. The echocardiogram (“echo”) is a sonogram of the heart that can show the structure and function of the heart. Images from the echo are not as precise as images from a cardiac MRI, and an echo cannot show fibrosis in the heart muscle. An echo is an appropriate imaging tool for patients that are not able to tolerate a cardiac MRI.
Hearts should be checked in this way at least once every year, starting at diagnosis, (more often if abnormalities are found). If there is any evidence of dysfunction or fibrosis, cardiac medication should be started. Medication should also be started by age 10, even if everything is normal – it is hoped that this will help to protect the heart and keep it beating effectively and efficiently for a very long time.
Common Heart Medications
There are several medications that may be helpful for the heart:
Cardiac Issues in Carriers
Female carriers are at risk for the development of cardiomyopathy. Carriers are encouraged to have their hearts checked by EKG and cardiac MRI every 3-5 years, if findings are normal (they should be checked more often if abnormalities are found). We will know much more about how to care for carrier hearts when the data from the Nationwide Carrier Study is analyzed, sometime this spring.
Share Your Data
Your cardiac journey can help tell the story of heart health in Duchenne and increase the understanding of experts in the field. That’s why we are asking you to update your Heart Module in the DuchenneConnect Registry. Log into your DuchenneConnect account, go to your profile page, and click on the Heart Module link. Either complete the survey for the first time, or select "Retake this survey" if you are updating your information.
Not in the Registry? Join today and become a Citizen Scientist, adding your data to the already powerful DuchenneConnect Registry! Please take 10 minutes today to complete this survey and you could win a prize this month, including a new iPad!
Your heart is important to you, and to everyone around you. PPMD will continue to do everything we can to push cardiac research and care, for people living with Duchenne and for carriers. We believe that discoveries in cardiac muscle may lead to the advancement of skeletal muscle care and research, and that discoveries in female carriers may in turn lead to the advancement of care and research in people living with Duchenne.
So in honor of your heart, from all of us working diligently to keep your hearts healthy, Happy Heart Month!