Multi parametric Cardiac Magnetic Resonance imaging and arrhythmic risk stratification in Fabry disease

Vijapurapu, Ravi (2023). Multi parametric Cardiac Magnetic Resonance imaging and arrhythmic risk stratification in Fabry disease. University of Birmingham. Ph.D.

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Fabry disease is an X-linked lysosomal storage disorder, with cardiovascular manifestations including progressive LVH, chronic myocardial inflammation, fibrosis, congestive cardiac failure, arrhythmia and sudden death. Despite widely available Fabry specific therapies, cardiac involvement has a significant prognostic impact and is still the leading cause of morbidity and mortality in FD. Thus early identification of cardiovascular involvement is key to enable initiation of therapy at the earliest opportunity and prevent progressive cardiomyopathy. The main aims of this thesis are:
1) To characterise the stages of cardiovascular disease and potential mechanisms for arrhythmia in FD;
2) To quantify the burden of arrhythmia and consequent therapy usage in FD e.g. cardiac device implantation.
This thesis has provided a significant insight into Fabry cardiomyopathy. The use of CMR tissue characterisation, feature tracking techniques and advanced ECG analysis has shown great promise not only in the detection of early cardiac involvement, but also in potentially predicting adverse clinical outcomes. Risk stratification and early therapy is crucial in reducing morbidity and mortality in Fabry disease and this thesis has provided a platform to provide this information and gain a better understanding of the complex pathophysiology in this rare disease.

Type of Work: Thesis (Doctorates > Ph.D.)
Award Type: Doctorates > Ph.D.
Licence: All rights reserved
College/Faculty: Colleges (2008 onwards) > College of Medical & Dental Sciences
School or Department: Institute of Cardiovascular Sciences
Funders: None/not applicable
Subjects: R Medicine > R Medicine (General)


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