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Published on: May 10, 2021
Genomics: the next step to elucidate the etiology of calcific aortic valve stenosis
Yohan Bossé1, Patrick Mathieu, Philippe Pibarot
1Department of Anatomy and Physiology, Laval Hospital Research Center, Laval University, Quebec City, Quebec, Canada. yohan.bosse@crhl.ulaval.ca
Insights
Calcific aortic valve stenosis (AVS) is an actively regulated disorder, not just degenerative. Genetic research reveals key factors in AVS pathogenesis, paving the way for improved diagnosis and treatment.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Molecular Biology
Background:
- Calcific aortic valve stenosis (AVS) is increasingly prevalent with aging populations, posing significant societal and economic challenges.
- Historically viewed as degenerative, AVS is now understood as an actively regulated disorder with identifiable molecular targets.
- Genetic predisposition is a significant factor in the development of AVS.
Purpose of the Study:
- To review candidate genes and signaling pathways implicated in AVS pathogenesis based on genetic research.
- To integrate genetic findings into a comprehensive understanding of AVS development.
- To highlight the potential of genomic research for advancing AVS diagnosis, prevention, and treatment.
Main Methods:
- Review of genetic research identifying candidate genes and signaling pathways in AVS.
- Synthesis of current knowledge on AVS pathogenesis.
- Discussion of emerging genomic approaches for AVS research.
Main Results:
- Identification of specific candidate genes and signaling pathways contributing to AVS.
- Elucidation of AVS as an actively regulated, genetically influenced disease.
- Recognition of the need for further research into AVS's complete genetic architecture.
Conclusions:
- Genetic research provides crucial insights into AVS pathogenesis.
- Genomic approaches offer a powerful opportunity to advance understanding and management of AVS.
- Further investigation is needed to fully unravel the genetic basis of AVS and refine patient care.
Abstract:
With the current shift toward an older population, calcific aortic valve stenosis (AVS) is likely to become a major societal and economic burden. For many years, AVS was regarded as a degenerative and nonmodifiable process. However, molecular studies unanimously demonstrated that AVS is an actively regulated disorder with several potential therapeutic targets. Many factors are predicted to cause AVS, and an important genetic predisposition is anticipated. In this review, we describe candidate genes and signaling pathways identified by genetic research and incorporate this new knowledge into a more comprehensive picture of factors involved in the pathogenesis of AVS. We also emphasize the need for additional studies to elucidate its complete genetic architecture. Recent advances in genomic research offer a remarkable opportunity to investigate AVS at the most fundamental level. The benefits of these new approaches can be observed in many complex diseases, but the field of AVS is trailing behind. We discuss the future utility of these new genomic approaches to improve our understanding of AVS and to refine the management of patients in terms of diagnosis, prevention, and treatment.
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