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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies

Soledad García-Hernandez1,2, Lorenzo Monserrat Iglesias3

  • 1Scientific Department, Health in Code S.L., A Coruña, Spain.

Current Cardiology Reports
|August 22, 2022
PubMed

Insights

Genetic testing for dilated cardiomyopathy (DCM) is cost-effective, aiding diagnosis and risk stratification. Identifying genetic causes enables personalized treatments and understanding disease progression.

Area of Science:

  • Cardiology
  • Genetics
  • Precision Medicine

Background:

  • Dilated cardiomyopathy (DCM) is a primary cardiomyopathy with diverse genetic and non-genetic causes.
  • DCM can represent a common endpoint for other cardiomyopathies.
  • Understanding genetic substrates is crucial for diagnosis and management.

Purpose of the Study:

  • Review main genetic substrates in DCM.
  • Discuss genotype-phenotype correlations.
  • Explore genetic testing's role in risk stratification and precision medicine.

Main Methods:

  • Comprehensive genetic studies in DCM patients.
  • Analysis of genotype-phenotype relationships.
  • Review of current literature on genetic testing and precision medicine.

Main Results:

  • Genetic studies yield up to 40% diagnostic rate in DCM.
  • Genetic findings impact clinical management, familial screening, and risk stratification.
  • Identification of genetic substrates facilitates understanding disease natural history.

Conclusions:

  • Genetic testing is a cost-effective diagnostic tool for DCM.
  • Genotype-based approaches are advancing precision medicine for DCM.
  • Targeting-gene therapies show promise for future DCM treatment.
Abstract

Keywords:
Familial dilated cardiomyopathyGeneticsPrecision medicineRisk stratification

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