The Cardiovascular Genetic and Therapeutic Implications of Muscular Dystrophy

Overview

This study will have significant impact on muscular dystrophy patients as it promotes early screening for heart disease. With early identification, beneficial medical therapy can be started sooner, resulting in restoring and maintaining normal heart function. This is critical to the survival of these patients. We have reported previously that heart failure in all patients may have common mechanisms, the "final common pathway". Heart failure is a significant health problem with 5 million people in the US carrying the diagnosis and accounting for 12-15 million office visits and 6.5 million hospital days per year. The number of deaths from heart failure continues to increase. The data from this study could impact patients worldwide with heart failure by offering new insight into an ever-growing disease population and lead to significant changes in how they are currently treated.

Objective(s) and Hypothesis(es): The objectives to be evaluated are as follows: Specific Hypothesis #1: Heart disease, specifically dilated cardiomyopathy, can be identified early in patients with muscular dystrophy and allow for earlier institution of medical therapies Specific Hypothesis #2: Non-invasive testing via magnetic resonance imaging (MRI) and echocardiography can identify early systolic and diastolic dysfunction in patients with muscular dystrophy as well as document structural changes ("Reverse remodeling") following institution of medical therapy Specific Hypothesis #3: Serologic testing can identify early cardiac dysfunction prior to changes on magnetic resonance imaging or echocardiogram that can predict disease onset, risk stratify future cardiac morbidity and mortality, and response to medical therapy Specific Hypothesis #4: Specific dystrophin mutations can be identified that predict the onset or protection against dilated cardiomyopathy Specific Hypothesis #5: Construction and maintenance of a database of patients with muscular dystrophy can be established that will allow for future research in patients with muscular dystrophy, specifically in the area of gene therapy Specific Hypothesis #6: Quality of life in patients with cardiac disease can be assessed and used to modulate therapy and also allow for noncardiac directed therapies that will improve overall well-being Specific Hypothesis #7: Further understanding of neurohormonal profiles, responses to medical therapy, and dystrophin mediated cardiomyopathy will impact all patients with heart failure world-wide