EM2002N "Clinical management of DMD-Associated Cardiomyopathy: Insights from the Wellstone Study" (IM GR-022120)
Duchenne muscular dystrophy (DMD) is an X-linked recessive dystrophinopathy that affects males at a rate of 1 in 3,500 to 5,000. The lack of dystrophin results in progressive muscle degeneration leading to necrosis and atrophy within cardiac and skeletal muscle of DMD patients. Multiple studies highlight early cardiac involvement, with a majority of patients developing a cardiomyopathy by 18 years of age. Due to an enhanced understanding of the overall underlying pathogenesis of DMD and advances in neurological and pulmonary care, the primary mode of death in 2020 in the vast majority of DMD patients is cardiovascular in nature. Despite the high incidence of cardiomyopathy in DMD patients, there is limited knowledge regarding the exact mode of cardiac remodeling in DMD and the optimal management of this type of cardiomyopathy. Therefore, the objective of this Medicine Grand Rounds is to enhance ones understanding of the pathogenesis of DMD-associated cardiomyopathy and how current management of DMD-associated cardiomyopathy may be affected by emerging innovative therapies targeting DMD.
UT Southwestern faculty, fellows, residents and medical students, community physicians, nurse clinicians, physician assistants and nurses.
At the conclusion of this activity, the participant should be able to:
- Recognize the high prevalence and mortality of DMD-associated cardiomyopathy.
- 2. Recognize objective clinical data supporting the current management of DMD-associated cardiomyopathy
- Recognize the unique characteristics of DMD-associated cardiomyopathy and the potential novel mode of cardiac remodeling in DMD.
- Recognize the potential impact of genome editing on the clinical management of DMD-associated cardiomyopathy.
Pradeep Mammen, M.D.
Associate Professor, Department of Internal Medicine
Division of Cardiology
Director of Translational Research, Advanced Heart Failure Program
Medical Director of Neuromuscular Cardiomyopathy Clinic
Clinical Expertise: Dr. Mammen is a clinician-scientist with clinical expertise in advanced heart failure, ventricular assist devices (VAD) and heart transplantation. He is an Associate Professor of Medicine at UT Southwestern Medical Center and holds the Alfred W. Harris, M.D. Professorship in Cardiology. Dr. Mammen serves as the Co-Director of the UT Southwestern Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center and the Director for Translational Research for the Advanced Heart Failure and Transplant Cardiology Program at UT Southwestern. Due to additional training he received in molecular cardiology, Dr. Mammen has also developed a unique interest as well as expertise in the care of patients who develop a familial or genetic form of cardiomyopathy (esp. neuromuscular-associated cardiomyopathies). In July of 2010, Dr. Mammen became the founding Medical Director of the UT Southwestern Neuromuscular Cardiomyopathy Clinic. Referrals to this clinic have exploded (700 patients to date), demonstrating the great clinical need for such a clinic in the community. Finally, he is utilizing this clinic as a platform for translational studies focused on novel therapies directed towards muscular dystrophy patients. These studies are aimed at improving both the overall care as well as the cardiovascular care provided to this unique patient population.
Scientific Expertise: In keeping with Dr. Mammen’s clinical expertise, he has developed significant scientific interest in investigating the molecular mechanisms and signaling pathways that contribute to heart failure and skeletal muscle myopathies. He runs a molecular cardiology laboratory that has been continuously funded by various federal (NIH), private (AHA) and industry (Catabasis Inc., GlaxoSmithKline Research Foundation, and PhaseBio Inc.) granting agencies. In particular, his research team is investigating the role of redox signaling to enhance our understanding of myogenesis, muscle regeneration, and cardiac/muscle remodeling.
- 1.00 AMA