Heart Research in Neuromuscular Disease

Heart problems have been reported in nearly all the neuromuscular disorders. They are particularly common and serious in Duchenne and Becker muscular dystrophies; in fact, dilated cardiomyopathy is the leading cause of death among these patients.

Faculty members at Nationwide Children’s Hospital are examining how cardiac complications develop in patients with neuromuscular disorders in hopes of improving diagnosis and treatment and enhancing patient outcomes.

Heart Research in Neuromuscular Disease Faculty

Kevin M. Flanigan, MD
Jerry R. Mendell, MD

Latest Findings of The Heart in Neuromuscular Disease Research

Analyzing Dystrophin Deletion Mutations Can Help Predict Age of Cardiomyopathy Onset in Becker Muscular Dystrophy

Cardiac involvement is present in approximately 70% of Becker muscular dystrophy and all X-linked dilated cardiomyopathy cases. To date, the timing of cardiomyopathy development remains unpredictable. We identified specific regions of the dystrophin gene that when mutated predispose BMD patients to onset early-onset dilated cardiomyopathy. These findings have potential implications for early intervention in the cardiac care of BMD patients and for therapeutic approaches that target the heart in dystrophinopathies.

Access an abstract of this study: Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. Circ Cardiovasc Genet. 2009 Dec;2(6):544-51.

Current Understanding and Management of Dilated Cardiomyopathy in Duchenne and Becker Muscular Dystrophy

Here we review the current understanding of the pathophysiology of dilated cardiomyopathy in patients with Duchenne and Becker muscular dystrophies, assessment of cardiac dysfunction for these patients and the recommended pharmacological treatment options and ongoing research directions. Implementing a routine cardiac assessment and timely pharmacological treatment in primary or specialty care settings is highlighted as an important step to optimize cardiac health among patients with Duchenne and Becker muscular dystrophies.

Access an abstract of this study: Current understanding and management of dilated cardiomyopathy in Duchenne and Becker muscular dystrophy. J Am Acad Nurse Pract. 2009 May;21(5):241-9.

ECG Changes are Similar in Patients with DMD Regardless of Presence of Dilated Cardiomyopathy

We re-examined the prevalence and correlation of electrocardiographic (ECG) changes with dilated cardiomyopathy in Duchenne muscular dystrophy (DMD). Findings show that ECG changes are similar in patients with DMD regardless of presence of DC. Previously reported characteristic ECG changes are seen in a minority of DMD cases. The most common findings are short PR interval and RVH. Prominent Q waves in leads II, III, aVF, V5, and V6 are more likely.

Access an abstract of this study: Re-examination of the electrocardiogram in boys with Duchenne muscular dystrophy and correlation with its dilated cardiomyopathy.  Am J Cardiol. 2009 Jan 15;103(2):262-5.

Current Heart Research in Neuromuscular Disease Grants

Analysis of Protein Interactions Mediated by Micro-Dystrophin in the mdx Heart, Anonymous (Federica Montanaro)

Treatment of the Dystrophin Deficient Cardiomyopathy, The Muscular Dystrophy Association (Hugh D. Allen and Jerry R. Mendell)

Unique cardiac interactions of dystrophin and their role in dilated cardiomyopathy, American Heart Association of Ohio (Eric Johnson)

The Heart in Duchenne Muscular Dystrophy, Muscular Dystrophy Association, Inc (Kevin Flanigan)