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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
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What Causes Hypertrophic Cardiomyopathy?
Bradley A Maron1, Rui-Sheng Wang2, Mercedes R Carnethon3
1Division of Cardiovascular Medicine, Department of Medicine and Harvard Medical School, Boston, Massachusetts.
The American Journal of Cardiology
|July 17, 2022
Summary
Hypertrophic cardiomyopathy (HCM) is not solely genetic. New research suggests acquired factors interacting with genetics create diverse HCM phenotypes, impacting patient care and genetic counseling.
Area of Science:
- Cardiology
- Genetics
- Network Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease, historically attributed to single gene variants in sarcomere proteins.
- For decades, the understanding of HCM etiology has centered on monogenic causes, impacting patient and family perspectives on genetic inheritance.
Purpose of the Study:
- To re-evaluate the established genetic basis of HCM.
- To explore the role of multifactorial etiologies, including acquired determinants interacting with genetic context, in explaining the diverse clinical spectrum of HCM.
- To inform future genetic counseling and healthcare access for HCM patients.
Main Methods:
- Analysis of clinical data.
- Network medicine approaches.
- Contemporary genetic studies.
Main Results:
- Single gene variants do not fully account for the broad clinical variability observed in HCM.
- Interactions between acquired disease factors and genetic predispositions are crucial in developing complex HCM phenotypes.
- A shift from a purely monogenic to a multifactorial view of HCM etiology is supported by emerging data.
Conclusions:
- HCM is likely a multifactorial disease, not uniformly genetic.
- Rethinking the etiology of HCM necessitates adjustments in clinical practice, genetic counseling, and patient support.
- Future research should focus on the interplay between genetic and acquired factors in HCM pathogenesis.
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