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Published on: August 8, 2022
Utilities and limitations of genetic testing for hypertropic cardiomyopathy
1The University of Texas Health Science Center, The Brown Foundation Institute of Molecular Medicine, Center for Cardiovascular Genetic Research, Texas Heart Institute at St Luke's Episcopal Hospital, 6770 Bertner Street, DAC 900A, Houston, TX 77030, USA +1 713 500 2350 ; +1 713 500 2320 ; Ali.J.Marian@uth.tmc.edu.
Insights
Genetic testing for hypertrophic cardiomyopathy (HCM) aids diagnosis but faces challenges due to gene diversity. Comprehensive approaches are needed for accurate risk stratification and treatment.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Hypertrophic cardiomyopathy (HCM) is a primary cardiac myocyte disease characterized by cardiac hypertrophy without a known cause.
- Over a dozen causal genes and hundreds of mutations have been identified for HCM.
Purpose of the Study:
- To review the utilities of genetic testing for the accurate diagnosis, prognostication, and treatment of HCM.
- To discuss the current limitations and future prospects of genetic testing in HCM management.
Main Methods:
- Review of existing data on genetic testing in HCM.
- Analysis of causal genes, mutations, and their clinical implications.
Main Results:
- Genetic testing for HCM is of significant interest, but gene and allele heterogeneity complicates the development of a universal screening test.
- Currently, screening for the 5 most common causal genes, accounting for approximately 60% of HCM cases, is feasible.
- Deep resequencing technologies are expected to enhance the diagnostic yield and clinical utility of genetic testing.
Conclusions:
- While genetic testing is valuable for HCM diagnosis, its utility for risk stratification is limited due to the influence of modifier genes and non-genetic factors.
- Accurate risk stratification and personalized, genetic-based interventions will require a comprehensive approach integrating mutation data, genetic modifiers, and environmental influences.
Background:
Hypertropic cardiomyopathy (HCM) is a primary disease of cardiac myocytes, diagnosed clinically by the presence of cardiac hypertrophy in the absence of any known cause. Over a dozen causal genes and several hundred mutations for HCM have been identified.
Objective:
The utilities of genetic testing in accurate diagnosis, prognostication and treatment of HCM are reviewed.
Methods:
The existing data are reviewed.
Results/Conclusions:
There is considerable interest in genetic testing for HCM. However, heterogeneity of the causal genes and alleles has hampered the efforts to develop a simple comprehensive genetic screening test. At present, it is feasible to screen for the 5 most common causal genes, which collectively account for ∼ 60% of the HCM. Advances of deep resequencing technologies are expected to increase the yield considerably and, hence, increase the use of genetic testing in clinical practice. However, the utility of genetic testing for risk stratification is expected to be limited, as factors other than the causal genes also contribute to the development of the phenotype. A comprehensive approach that includes the information content of the causal mutations, the modifier genes and the non-genetic factors will be necessary for accurate risk stratification and genetic-based interventions.
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