Fabry Cardiomyopathy and Heart Failure: The Roles of Inflammation and Valvular Heart Disease

  • Author / Creator
    Yogasundaram, Haran
  • Fabry disease (FD) is an X-linked recessive multisystem disorder and an underrecognized secondary cause of hypertrophic cardiomyopathy. A gene variant encoding the enzyme α-galactosidase A results in deficient or absent hydrolase activity, resulting in the accumulation of glycosphingolipids in various organs including the nervous system, kidneys, skin, eyes, and heart. Cardiac involvement of FD includes biventricular hypertrophy, conduction disease, and coronary microvascular dysfunction leading to heart failure with preserved ejection fraction. Indeed, cardiovascular disease is now a leading cause of morbidity and mortality in FD patients. Our research explores the role of inflammation and valvular heart disease in FD and their contributions to HF. Our data suggests that FD patients have increased inflammatory biomarkers, which correlate with end-organ dysfunction. In addition, our data demonstrates the increased burden of valvular disease in this population. Our findings contribute to a growing understanding of Fabry disease and its cardiovascular consequences.

  • Subjects / Keywords
  • Graduation date
    Spring 2021
  • Type of Item
  • Degree
    Master of Science
  • DOI
  • License
    This thesis is made available by the University of Alberta Libraries with permission of the copyright owner solely for non-commercial purposes. This thesis, or any portion thereof, may not otherwise be copied or reproduced without the written consent of the copyright owner, except to the extent permitted by Canadian copyright law.