Use of Novel Plasma Biomarkers in Muscular Dystrophy Patients for Detection and Monitoring of Cardiac Disease

Student Researcher:
Bailey Miskew Nichols

Supervisor / Principle Investigator:
Dr. Gavin Oudit

Additional Authors:
Anish Nikhanj

MD Class of 2020


Muscular Dystrophies (MDs) are a large group of inherited disorders presenting with muscle weakening and a variety of systemic complications. Cardiac disease is a major cause of morbidity and mortality in this population. Currently, cardiac screening procedures are time consuming, costly and often detect late and progressed stages of disease. This study aimed to detect a novel plasma biomarker that could accurately predict which MD patients are at risk for developing cardiac disease.

Through the Neuromuscular Multidisciplinary (NMMD) clinic at the University of Alberta, a cohort of 96 MD patients were followed over a 2-year period. Patients received electrocardiogram (ECG), echocardiogram (ECHO), and cardiac magnetic resonance imaging (MRI) studies, which were compiled in addition to medication profiles. Voluntary blood draws were also conducted. Plasma concentrations of BNP, TNF-RI, TNF-RII, TNF-, IL-6 and CRP were compared patient diagnostic tests listed above to assess their ability to predict arrhythmias, left ventricular (LV) size, LV function and right ventricular (RV) function. Differences between males and females and those with and without cardiac and respiratory devices was also assessed to reduce confounding factors.

BNP, TNF-RII, IL-6 and CRP was elevated in MD patients in comparison to the healthy control population. None of the plasma biomarkers were significantly different between MD patients with and without arrhythmias. BNP was predictive of increased LV size. MD patients with reduced LV functions had significantly elevated TNF-RI, TNF- and IL-6 plasma levels.

BNP, TNF-RI, TNF-, IL-6 and CRP are biomarkers which show potential for being used clinically to detect LV dilation and reduced LV function in MD patients. Further research is required before these can be used in clinical practice.