Funding outcome

Limb Girdle muscular Dystrophy (LGMD) is one of many forms of muscular dystrophy. LGMD has 2 major subclasses, LGMD1 and LGMD2 each with their own subclasses. People with LGMD have progressive muscle weakening in the shoulder and pelvis regions; making many daily tasks including walking difficult. The disease can also target other organ systems including the cardiac, respiratory, and neurological systems. We are particularly interested in the heart conditions that can present in LGMD patients as it is the number one cause of death in the population. The most common heart conditions seen in this population are irregular rhythms and enlargement of the heart, called dilated cardiomyopathy, which can lead to heart failure. Through the University of Alberta a multidisciplinary neuromuscular clinic was created for patients diagnosed with muscular dystrophy. Here patients can conveniently be seen by a variety of specialists in one location. Through this clinic a database was created to track a variety of outcomes in these patients. Data including known diagnosis, medication use, seeking of medical attention, cardiac device (ventricular assist devices, implantable cardiac defibrillators, and pace makers), and medical tests (ECHOs, cardiac MRls, ECGs). Through this clinic blood plasma is collected from patients. Labs are run to measure the level of the following components, known as biomarkers: Troponin l,B-type natriuretic peptide (BNP), C reactive protein (CRP) and Tumor Necrosis Factoralpha (TNF-alpha). Troponin I is used to detect cardiac muscle damage: while BNP is released when the heart is stretched and can indicate heart failure. CRP and TNF-alpha are both inflammatory markers that can become elevated during heart disease. These have been shown to be useful markers in other cardiac diseases. We plan to compare the levels of these biomarkers to the information in the database in order to determine if these biomarkers are useful in early detection and/or monitoring of heart conditions in LGMD patients. We will compare the levels of the above biomarkers in those with and without ECGs showing irregular rhythms. We will also graph the level of biomarker against the size of particular chambers in the heart to see if there is a correlation. Biomarker levels can be different between men and woman so we plan to compare these two groups to see if there are any gender specific biomarkers. If a useful biomarker is detected clinicians will be better able to predict which LGMD patients are at higher risk of developing cardiac disease. They will also be able to monitor the progression of the disease and the usefulness of therapies. Thus leading to improved clinical outcomes for LGMD patients.