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Cardiac Initiative

Cardiac Initiative

PPMD has an ongoing commitment to cardiac care, because the heart is a muscle too.

Heart issues don't just affect some people with Duchenne; they affect ALL people with Duchenne. While advances in respiratory care have improved respiratory outcomes, dilated cardiomyopathy and heart failure remain the leading cause of death in Duchenne.

Just as there are variations in onset of skeletal muscle difficulties, there are variations in the onset of cardiac muscle difficulties. Eventually, nearly 100% of all people with Duchenne develop dilated cardiomyopathy and heart failure. Cardiomyopathy is also a potential risk for mothers and daughters who are carriers.  

For the past several years, PPMD has heavily invested in the pursuit of optimal care, interventions, and research pertaining to the management and prevention of cardiomyopathy. In 2011, PPMD funded close to $2 million toward toward developing a comprehensive Cardiac Initiative. 

We have learned so much, but there is still a tremendous amount to do to understand and improve heart health in people with Duchenne. For this reason, PPMD is committing an additional $1 million to bring together experts to understand cardiac needs and opportunities; further our exploration of novel cardiac treatments; and understand more about device and transplant interventions.

Our RACE to Heart Health in Duchenne


Cardiac research has received a significant amount of funding over the past several years. Below is a list of past cardiac grants PPMD has funded, as well as current and new initiatives we are supporting in Identifying New Cardiac Drugs and Repurposing Existing Drugs to Treat Cardiomyopathy categories.

SERCA2a PTC Thearapeutics $250,000
Tadalafil (Ciaalis) Dr. Ron Victor, Cedar Sinai Medical Center $750,000
SERCA2a Dr. Dongshen Duan, Univ. of Missouri $280,425
Epleronone Trial Dr. Kan Hor, Cincinnati Children’s Hospital $84,092
Protein Ineractions Dr. Federica Montanaro (2011) (2012) $102,500
Sildenafil and Prednisone Dr. Stan Froehner $132,322
Aldosterone inhibitors Dr. Jill Rafael-Fortney $50,000


As you are probably aware, the MD-CARE Act is up for reauthorization this year (2013). One amendment focuses on enhancing the care of adults living with Duchenne and Becker muscular dystrophy. As cardiac issues become more important as individuals age, cardiac care of adults with Duchenne and Becker is a primary focus of this amendment. ($130,000 over 2 years)


At the Transforming Duchenne Care Meeting (June 2012), five areas of subspecialty care were identified for the provision of optimal care, including cardiac care. As a next step in the Transforming Duchenne Care Initiative, we will identify treatments and procedures that demonstrate that cardiac care is being provided in agreement with the Care Considerations. We are committed to providing the community with more information about the level of cardiac (and other) care provided at clinics and medical centers across the United States. (60,000)


In 2010, PPMD’s Cardiac Care workshop addressed cardiac surveillance and care of individuals living with Duchenne, throughout their lives. These findings were incorporated into the development of the Care Considerations, made possible by the MD-CARE Act. These care guidelines are a major resource for medical providers caring for patients with Duchenne around the world. (40,000)

In order to address current standards of care, as well as novel approaches to cardiac health and maintenance, PPMD recently presented four cardiac webinars in 2012 – 2013. These webinars addressed:

  • Monitoring cardiac function in individuals living with Duchenne
  • Monitoring cardiac function in carriers
  • Cardiac care of adults with Duchenne and Becker 
  • Cardiac interventions including the use of ventricular assist devices in Duchenne

What we know and don’t know

Over the last years, the field of cardiology has become more proactive in addressing issues of the heart in Duchenne.  

  • Medications:
    Many, though not all, pediatric cardiologists recommend ace inhibitors or Angiotensin II receptor antagonists (Losartin) around the age of 7 +/- years.  Beta blockers are typically added to the regimen as the heart rate increases above 100bpm.   Cardiac MRI is becoming standard of care in major institutions as well.   Analysis of Cardiac MRI evaluates the presence of fibrosis and holter monitors evaluate rhythm disturbances which may possibly lead to eventual heart failure.  
  • Devices:
    Several institutions have been recommending ICD placement for adolescents and young adults with diminished cardiac function, though there is no consistency and no guidelines have been established.   In addition, LVADs (Left Ventricular Assist Devices), once considered a bridge to transplant in the adult population, are now being investigated as destination therapy.  Over the last years, LVADs have been used in the pediatric population and are now being considered as destination therapy for pediatric patients living with Duchenne and heart failure.


PPMD’s promise to the community is to lead the fight to end Duchenne. We will continue to strive to find treatments for Duchenne that will impact both skeletal and cardiac muscle. We will do this by:

  • Identifying and rapidly fund the most promising near and long-term Duchenne research and cutting edge therapies.
  • Stimulating new research to ensure that the therapeutic pipeline is rich with opportunity
  • Working in partnership with the pharmaceutical industry to maximize their investment in Duchenne.
  • Developing an International Research Study to Evaluate Cardiac Care
  • Collaborating with pediatric cardiology and pediatric cardiac surgeons in major institutions for the purpose of developing criteria, guidelines, and standards of care for Ventricular Assist Devices (VADs) in Duchenne

We hope that you will
consider being a part of this important initiative, providing the most optimal cardiac care possible while working to End Duchenne.


Related Links

Dilated Cardiomyopathy in Muscular Dystrophy (download)
Beneficial Effects of Beta-Blockers and ACE Inhibitors in Duchenne (download)
Safety and Efficacy of Carvedilol Therapy (download)

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