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Changing concepts in heart muscle disease: the evolving understanding of hypertrophic cardiomyopathy
William E Moody1,2, Perry M Elliott3
1Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.
Insights
Hypertrophic cardiomyopathy (HCM) has evolved from a rare, lethal condition to a common, manageable disorder. Early diagnosis and innovative treatments now offer patients a normal life expectancy and improved quality of life.
Area of Science:
- Cardiology
- Genetics
- Medical Diagnostics
Background:
- Hypertrophic cardiomyopathy (HCM) was historically viewed as a rare, fatal disease primarily affecting young adults with limited treatment options.
- Current understanding recognizes HCM as a common, life-spanning disorder with diverse clinical presentations, manageable for most individuals.
Purpose of the Study:
- To highlight the transformation in the diagnosis and management of hypertrophic cardiomyopathy over the past sixty years.
- To emphasize the impact of increased awareness, improved diagnostic tools, and novel therapies on patient outcomes.
Main Methods:
- Review of the historical progression of hypertrophic cardiomyopathy understanding and treatment.
- Integration of advancements in cardiac imaging, artificial intelligence, and genetic research.
- Analysis of the impact of contemporary diagnostic and therapeutic innovations.
Main Results:
- HCM is now recognized as a common condition with a heterogeneous phenotype, manageable throughout the lifespan.
- Enhanced diagnostic capabilities, including AI-assisted imaging and screening, enable earlier and more precise diagnosis.
- Innovations in treatment allow most diagnosed patients to achieve normal life expectancy, good function, and quality of life.
Conclusions:
- The contemporary approach to hypertrophic cardiomyopathy offers significantly improved prognoses, with patients anticipating normal life expectancy.
- Ongoing research in molecular genetics and novel therapies promises further advancements, potentially leading to disease amelioration or prevention.
- The future of HCM management is optimistic, with substantial rewards anticipated for patients through continued scientific progress.
Abstract:
Sixty years ago, hypertrophic cardiomyopathy (HCM) was considered a rare lethal disease that affected predominantly young adults and for which there were few treatment options. Today, it is recognised to be a relatively common disorder that presents throughout the life course with a heterogeneous clinical phenotype that can be managed effectively in the majority of individuals. A greater awareness of the condition and less reluctance from healthcare practitioners to make the diagnosis, coupled with improvements in cardiac imaging, including greater use of artificial intelligence and improved yields from screening efforts, have all helped facilitate a more precise and timely diagnosis. This enhanced ability to diagnose HCM early is being paired with innovations in treatment, which means that the majority of patients receiving a contemporary diagnosis of HCM can anticipate a normal life expectancy and expect to maintain a good functional status and quality of life. Indeed, with increasing translation of molecular genetics from bench to bedside associated with a growing number of randomised clinical trials of novel therapies aimed at ameliorating or perhaps even preventing the disease, the next chapter in the story for HCM will provide much excitement and more importantly, offer much anticipated reward for our patients.
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