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17-04-2024 | Congenital Valvular Heart Disease | Cardiovascular Genomics (KG Aragam, Section Editor)

Insights into the Inherited Basis of Valvular Heart Disease

Authors: Mengyao Yu, Nabila Bouatia-Naji

Published in: Current Cardiology Reports

Abstract

Purpose of Review

Increases in the availability of genetic data and advances in the tools and methods for their analyses have enabled well-powered genetic association studies that have significantly enhanced our understanding of the genetic factors underlying both rare and common valve diseases. Valvular heart diseases, such as congenital valve malformations and degenerative valve lesions, increase the risk of heart failure, arrhythmias, and sudden death. In this review, we provide an updated overview of our current understanding of the genetic mechanisms underlying valvular heart diseases. With a focus on discoveries from the past 5 years, we describe recent insights into genetic risk and underlying biological pathways.

Recent Findings

Recently acquired knowledge around valvular heart disease genetics has provided important insights into novel mechanisms related to disease pathogenesis. Newly identified risk loci associated valvular heart disease mainly regulate the composition of the extracellular matrix, accelerate the endothelial-to-mesenchymal transition, contribute to cilia formation processes, and play roles in lipid metabolism.

Summary

Large-scale genomic analyses have identified numerous risk loci, genes, and biological pathways associated with degenerative valve disease and congenital valve malformations. Shared risk genes suggest common mechanistic pathways for various valve pathologies. More recent studies have combined cardiac magnetic resonance imaging and machine learning to offer a novel approach for exploring genotype-phenotype relationships regarding valve disease. Progress in the field holds promise for targeted prevention, particularly through the application of polygenic risk scores, and innovative therapies based on the biological mechanisms for predominant forms of valvular heart diseases.

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Title: Insights into the Inherited Basis of Valvular Heart Disease
Authors: Mengyao Yu
Nabila Bouatia-Naji
Publication date: 17-04-2024
Publisher: Springer US
Keywords: Congenital Valvular Heart Disease
Human Genetics
Genetic Testing
Genetic Ancestry
Valvular Heart Disease
Congenital Heart Anomaly
Aortic Valve Stenosis
Mitral Valve Insufficiency
Tricuspid Valve Insufficiency
Published in: Current Cardiology Reports
Print ISSN: 1523-3782
Electronic ISSN: 1534-3170
DOI: https://doi.org/10.1007/s11886-024-02041-6

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ACC 2024 Congress Coverage

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