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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 hypertrophic cardiomyopathy: established and emerging implications for clinical practice
Luis R Lopes1,2, Carolyn Y Ho3, Perry M Elliott1,2
1Barts Heart Centre, St. Bartholomew's Hospital, West Smithfield, London EC1A 7BE, UK.
Insights
Genetic testing for hypertrophic cardiomyopathy (HCM) aids diagnosis and family screening. New insights into genetic variations and targeted therapies are improving its clinical use.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Genetic Medicine
Background:
- Pathogenic variations in cardiac sarcomere genes cause 30%-40% of hypertrophic cardiomyopathy (HCM) cases.
- Genetic testing is crucial for diagnosing HCM and identifying specific etiological subtypes.
- Current applications are limited by challenges in establishing genotype-phenotype correlations.
Purpose of the Study:
- To review the clinical utility of genetic testing in hypertrophic cardiomyopathy.
- To discuss the evolving role of genetic information in risk prediction and treatment.
- To highlight the potential of new data and therapies to advance genetic testing in clinical practice.
Main Methods:
- Literature review of genetic testing in hypertrophic cardiomyopathy.
- Analysis of current clinical applications and limitations.
- Discussion of emerging trends in genetic variation and targeted therapies.
Main Results:
- Genetic testing confirms HCM diagnosis and facilitates family screening.
- Identifies specific etiologies guiding distinct monitoring and treatment.
- Challenges remain in robust genotype-phenotype correlations for risk prediction.
Conclusions:
- Genetic testing is a valuable tool for HCM diagnosis and management.
- Emerging data on gene interactions and targeted therapies promise expanded clinical utility.
- A new era for genetic testing in routine HCM practice is anticipated.
Abstract:
Pathogenic variation in genes encoding proteins of the cardiac sarcomere is responsible for 30%-40% of cases of hypertrophic cardiomyopathy. The main clinical utility of genetic testing is to provide diagnostic confirmation and facilitation of family screening. It also assists in the detection of aetiologies, which require distinct monitoring and treatment approaches. Other clinical applications, including the use of genetic information to inform risk prediction models, have been limited by the challenge of establishing robust genotype-phenotype correlations with actionable consequences, but new data on the interaction between rare and common genetic variation, as well as the emergence of therapies targeting disease-specific pathogenic mechanisms, herald a new era for genetic testing in routine practice.
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