What is the project focus?
Muscular Dystrophy (MD) leads to fibrofatty replacement of skeletal and cardiac muscle. This translates into progressive skeletal muscle weakness, respiratory insufficiency and cardiomyopathy. The earliest manifestations of cardiac disease are increasingly well understood through a multifaceted approach of biomarker evaluation, strain imaging, cardiac magnetic resonance imaging (cMRI), and rhythm monitoring. However, medical therapy prior to the onset of severe heart failure remains inconsistently applied, while the number of pharmacologic therapies for dilated cardiomyopathy is growing rapidly. The long term survival of men with Duchenne Muscular Dystrophy (DMD) is also increasing, leading to a growing number of people living with severe ventricular dysfunction. This has presented clinicians and families with the necessity of making significant decisions regarding cardiac care (including advanced therapies such as implantable cardioverter-defibrillators (ICDs), ventricular assist devices (VADs) and heart transplantation while practice is rapidly evolving and therapeutic benefit is not yet defined.
This project seeks to understand current heart failure outcomes in DMD. We will then use a data driven approach to optimize the number of patients receiving GDMT (or consensus driven therapy for specific medical/advanced therapies if applicable) and those receiving a timely evaluation/discussion of advanced therapies.
Who is impacted?
MD patients with left ventricular ejection fraction (LVEF) < 45%, fractional shortening (FS) < 19%, or worse than mild systolic dysfunction qualitatively are included in the ACTION Muscular Dystrophy Registry.
What are we doing to help?
We combined practices and guidelines from multiple ACTION centers to develop a new ACTION harmonized protocol for DMD therapies.
Providers: To download our Duchenne Muscular Dystrophy (DMD) Therapy Harmonization protocol please login to (or sign up for) MyACTIONEducation.org, and visit the ACTION Library > Resources.
What data do we have?
We are collecting patient data to understand the current heart failure outcomes for MD patients. In the first year, we have collected 100 patients from 18 different institutions and continue to grow. See below.