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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Genetics of common forms of heart failure
1Department of Internal Medicine, Washington University School of Medicine, 660 S. Euclid Ave., St Louis, MO 63110, USA. gdorn@dom.wustl.edu
Purpose Of Review:
Genetic factors contribute to overall heart failure risk, but specific risk alleles are only beginning to be identified. Here, new results from candidate gene and genome-wide polymorphism studies that have delineated associations between polymorphic genes and heart failure are reviewed in the context of their likely clinical translation and implementation.
Recent Findings:
Recent data support and extend consequences of genetically variant β1-adrenergic receptors and G-protein receptor kinase 5 on heart failure. New genome-wide and subgenome-wide studies have identified unexpected genetic modifiers of heart failure risk and outcome, suggesting that determinants of heart failure onset and progression are distinct, and pointing to unexpected genetic interactions in cardiac disease.
Summary:
Advances in high-throughput genotyping and resequencing herald a rapid expansion of genomic information in heart failure. With identification of putative heart failure risk alleles, the next step will be prospective clinical trials evaluating the benefits of genotype-directed heart failure management.
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Pathophysiology of Heart Failure
Heart Failure I: Introduction
Heart Failure II: Pathophysiology
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Heart Failure IV: Classification and Diagnostic Evaluation
Imbalances in Cardiac Output
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send blood...
