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Characterization of Duchenne Muscular Dystrophy-Associated Cardiomyopathy Using Four-Dimensional Medical Imaging

thesis
posted on 2024-03-11, 13:59 authored by Conner Clair EarlConner Clair Earl

  

Heart disease is the leading cause of death for individuals with Duchenne muscular dystrophy (DMD). DMD is a devastating and progressive neuromuscular disease with no known cure. This X-linked genetic disorder affects nearly 1 in 5000 boys and manifests as debilitating muscle weakness and progressive cardiomyopathy (CM). While CM in some individuals with DMD progresses rapidly and fatally in their teenage years, others can live relatively symptom-free into their thirties or forties. Early identification and treatment can improve quality and length of life, but currently, there are no standard imaging biomarkers that can detect early onset or rapidly progressing DMD CM. Addressing this gap, we describe here a novel cardiac image analysis paradigm using 4D cardiac magnetic resonance imaging (CMR) to map left-ventricular kinematics comprehensively in DMD CM. The primary goal of this dissertation work is to introduce novel imaging biomarkers and computational methods to enable earlier diagnosis and precise prognosis for cardiac function in DMD. Central to this goal, we identified myocardial strain biomarkers that predict the early onset and rapid progression of cardiac disease in vulnerable patients. These findings bridge clinical gaps and pave the way for multi-center studies to characterize DMD CM progression and assessment of individual patient risk profiles for improved treatment and outcomes in DMD.

Funding

Spatiotemporal and Deep Learning Analysis of Cardiac Imaging for Predictive Risk Stratification in Duchenne Muscular Dystrophy

National Heart Lung and Blood Institute

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Indiana Clinical and Translational Sciences Institute

National Center for Advancing Translational Sciences

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History

Degree Type

  • Doctor of Philosophy

Department

  • Biomedical Engineering

Campus location

  • West Lafayette

Advisor/Supervisor/Committee Chair

Craig J. Goergen

Additional Committee Member 2

Larry W. Markham

Additional Committee Member 3

Jonathan H. Soslow

Additional Committee Member 4

Vitaliy L. Rayz

Additional Committee Member 5

Guang Lin