Cardiac care and cardiomyopathy remain major areas of interest and concern for 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. Cardiomyopathy is a potential risk for mothers and daughters who have been diagnosed as carriers. Carriers should be informed of the need for ongoing screening and care.
Cardiac care changes throughout the life span of Duchenne. Because the heart is a muscle too, it is affected by a lack of dystrophin just as are the skeletal muscles. And, just as there are variations in onset of skeletal muscle difficulties, there are variations in the onset of cardiac muscle difficulties. Eventually, however, nearly 100% of all boys develop dilated cardiomyopathy and heart failure.
PPMD has been on a mission to alter this outcome for quite some time. In 2011, the cardiac initiative was launched to enhance that effort. In keeping with the research strategies of Better, Faster, Now, several cardiac drugs (sildenafil, tadalafil, aldactone) were identified as medications that could possibly afford cardiac and/or skeletal muscle protection. Those clinical studies were launched in the spring of 2011 and continue.
In addition, PPMD has supported Dr. Dongsheng Duan at the University of Missouri to develop a gene therapy approach for the heart and PTC Therapeutics to target a small molecule drug to SERCA2A, an important cardiac protein. Both of these approaches could complement other drug approaches designed to improve strength in skeletal muscle.
Because cardiology is such an important area, PPMD will be holding a series of cardiac webinars to discuss cardiac care throughout the life span of Duchenne. Many experts in the field have been invited to participate. We hope that this series will offer experts across institutions the opportunity to collaborate in informing our community about what they know about the heart and Duchenne.
A cardiac meeting, which will be attended by cardiac experts world wide, is in the planning stages. We hope to host this meeting early in 2013. This meeting will address all aspects of cardiac care throughout the life span of a person with Duchenne. A report will be published, which will inform the greater Duchenne community of the results of this meeting.
We look forward to these important upcoming events and hope you will be able to attend. As always, links to these webinars will be posted as soon as they are available.
The series schedule:
Kathi Kinnett, Director of Clinical Care
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