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Published on: November 2, 2020
Novel molecular insights and potential approaches for targeting hypertrophic cardiomyopathy: Focus on coronary
Teresa Pasqua1, Teresa Tropea2, Maria Concetta Granieri3
1Department of Health Science, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy.
Insights
Hypertrophic cardiomyopathy (HCM), a common genetic heart disease, presents variable symptoms making diagnosis challenging. This review explores non-genetic factors and abnormal coronary function in HCM progression and discusses novel therapeutic strategies.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease, caused by genetic variants in sarcomere proteins.
- HCM is characterized by left ventricle hypertrophy and variable clinical manifestations, often leading to delayed diagnosis.
- The disease carries a significant annual mortality rate of up to 6%.
Purpose of the Study:
- To review the complex interplay between non-genetic molecular mechanisms and HCM.
- To highlight the pathophysiological role of abnormal coronary artery function in HCM.
- To discuss innovative therapeutic strategies for modifying HCM phenotype.
Main Methods:
- This is a review article, synthesizing existing literature.
- Focuses on non-genetic molecular mechanisms and coronary artery function.
- Examines potential therapeutic targets for HCM.
Main Results:
- HCM onset and progression involve multifaceted non-genetic molecular mechanisms.
- Abnormal coronary artery function plays a key pathophysiological role in HCM.
- Innovative therapies targeting coronary modulation show promise for modifying HCM phenotype.
Conclusions:
- Understanding non-genetic factors and coronary function is crucial for managing HCM.
- Novel therapeutic strategies, including endogenous coronary modulators, are needed to improve HCM outcomes.
- Further research into these areas could reduce HCM-related mortality.
Abstract:
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder that associates with nucleotide sequence variants in genes encoding sarcomere related proteins, and is recognized as the most common heritable cardiac diseases. Clinically, HCM can be extremely variable and this makes the diagnosis difficult until the development of serious or fatal events. Nevertheless, the main hallmark of HCM is represented by left ventricle hypertrophy that can be occasionally associated to cardiac arrhythmias, chest pain, diastolic dysfunction, obstruction of left ventricular outflow tract. The present review aims to focus on the complex interplay existing between the multifaceted non-genetic molecular mechanisms underlying HCM onset and progression, and the key pathophysiological role of abnormal coronary artery function. As the clinical course of HCM shows a mortality rate per year up to 6% the importance of innovative therapeutic strategies will be discussed, especially in regard to the use of potential endogenous coronary modulators to be enrolled as modifiers of HCM phenotype.
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