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Genetic Testing in Patients with Hypertrophic Cardiomyopathy
Jiri Bonaventura1, Eva Polakova1, Veronika Vejtasova1
1Department of Cardiology, Motol University Hospital, 2nd Faculty of Medicine, Charles University, V Uvalu 84, 15006 Prague, Czech Republic.
International Journal of Molecular Sciences
|October 13, 2021
Summary
Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease. Genetic testing advances understanding of its complex causes, aiding future treatment strategies for better patient outcomes.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Genetic Disease Mechanisms
Background:
- Hypertrophic cardiomyopathy (HCM) affects up to 1 in 200 individuals, often inherited in an autosomal dominant pattern.
- Most known pathogenic variants are linked to sarcomeric protein genes, but HCM's genetic basis is increasingly recognized as complex.
- Thousands of mutations across over 60 genes are associated with HCM, complicating genetic diagnosis and interpretation.
Purpose of the Study:
- To review the historical context and recent breakthroughs in understanding the genetics of hypertrophic cardiomyopathy.
- To discuss the integration and clinical utility of molecular genetic testing for HCM.
- To explore the implications of genetic findings for disease mechanisms and therapeutic development.
Main Methods:
- Comprehensive literature review of genetic studies in hypertrophic cardiomyopathy.
- Analysis of current diagnostic approaches using molecular genetic testing.
- Discussion of variant interpretation challenges and the significance of non-Mendelian forms.
Main Results:
- HCM genetics is complex, involving numerous genes beyond sarcomeric proteins.
- Genetic variant interpretation remains challenging, with many variants of uncertain significance identified.
- Patients without identified pathogenic variants may represent a non-Mendelian form with potentially better prognoses.
Conclusions:
- Understanding the genetic architecture of HCM is crucial for elucidating disease pathogenesis.
- Molecular genetic testing is becoming integral to clinical practice for HCM diagnosis and management.
- Further research into HCM genetics promises novel therapeutic targets and improved patient stratification.
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