Thesis
The role of common cardiac comorbidities and mitochondrial variants as modifiers and/or phenocopies in hypertrophic cardiomyopathy (HCM)
- Abstract:
- Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac condition, typically associated with sarcomeric gene mutations. However, 40% of patients lack identifiable pathogenic variants, suggesting the role of other factors. This thesis investigates the interaction between selected genetic and non-genetic factors in HCM, focusing on the common cardiac comorbidities hypertension and obesity, and rare genetic variants known to mimic the HCM phenotype - the MT-TI:m.4300A>G mitochondrial variant. Through advanced imaging, biomarker analysis, and clinical data, this research aims to clarify the mechanisms influencing HCM phenotypes and improve diagnostic and therapeutic strategies.
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- Files:
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(Preview, Dissemination version, pdf, 27.2MB, Terms of use)
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Authors
Contributors
+ Rider, O
- Institution:
- University of Oxford
- Division:
- MSD
- Role:
- Supervisor
+ Mahmod, M
- Institution:
- University of Oxford
- Division:
- MSD
- Department:
- Radcliffe Department of Medicine
- Sub department:
- RDM-Division of Cardiovascular Medicine
- Role:
- Supervisor
- ORCID:
- 0000-0002-0601-3510
+ Watkins, H
- Role:
- Supervisor
- DOI:
- Type of award:
- MSc by Research
- Awarding institution:
- University of Oxford
- Language:
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English
- Keywords:
- Pubs id:
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2374484
- Local pid:
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pubs:2374484
- Deposit date:
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2026-01-15
- ARK identifier:
Terms of use
- Copyright holder:
- Mohammed Abid Akhtar
- Copyright date:
- 2025
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