Journal
JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH
Volume 2, Issue 4, Pages 471-482Publisher
SPRINGER
DOI: 10.1007/s12265-009-9120-y
Keywords
Hypertrophic Cardiomyopathy; Genetics; Animal Models; Treatment
Funding
- Australian Rotary Health Research Scholarship
- National Health and Medical Research Council (NHMRC)
- National Heart Foundation of Australia (NHFA)
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Hypertrophic cardiomyopathy (HCM) is a complex cardiovascular genetic disorder characterized by marked clinical and genetic heterogeneity. Major advances have been made in the clinical characterization of patients with HCM and in identifying causative gene mutations. However, many questions remain regarding the underlying disease mechanisms. Furthermore, in a disease where no pharmacological treatments currently exists which can either prevent or cause regression of disease, processes to identify novel therapies are the crucial next steps. Animal models of HCM have already proved to be universally useful in confirming gene causation and dissecting out key molecular pathways involved in the development of HCM and its sequelae, including heart failure and sudden death. These findings have led to studies in animal models investigating novel therapeutic approaches in HCM, specifically targeting the development and progression of cardiac hypertrophy, fibrosis, and heart failure. This review will provide a brief summary of some of the key animal models of HCM and how these models have been utilized to understand disease mechanisms and to investigate new potential therapies. Ongoing studies using animal models of HCM will lead to a greater understanding of disease pathogenesis and will facilitate the translation of these findings to improved clinical outcomes in HCM patients.
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