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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 in cardiomyopathies: updates and future perspectives

Federico Garoia1, Teresa Maria Capovilla, Anna Reginato

  • 1European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart; Cardiovascular Department, Azienda Sanitaria-Universitaria Giuliano Isontina (ASUGI), Trieste, Italy.

Journal of Cardiovascular Medicine (Hagerstown, Md.)
|June 27, 2025
PubMed

Insights

Genetic testing is revolutionizing the diagnosis and prognosis of cardiomyopathies, enabling personalized treatments and family screening for inherited heart conditions. This approach aids in assessing risk and guiding interventions for better patient outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Precision Medicine

Background:

  • Cardiomyopathies are diverse heart muscle diseases causing significant morbidity and mortality.
  • Genetic factors, including Mendelian and non-Mendelian inheritance, are critical in cardiomyopathy development.
  • Environmental influences also contribute to these cardiac disorders.

Purpose of the Study:

  • To review the diagnostic and prognostic utility of genetic testing in cardiomyopathies.
  • To explore the role of genetic profiles in personalized interventions and risk assessment.
  • To highlight the potential of gene-targeted therapies and family screening.

Main Methods:

  • Review of current literature on genetic testing in cardiomyopathies.
  • Analysis of diagnostic and prognostic applications of genetic testing.
  • Discussion of gene-targeted therapies and family screening strategies.

Main Results:

  • Genetic testing offers enhanced diagnostic and prognostic characterization of cardiomyopathies.
  • It provides crucial insights for assessing arrhythmic risk and guiding implantable cardioverter defibrillator (ICD) implantation.
  • Emerging gene-targeted therapies show promise for improving patient outcomes.

Conclusions:

  • Genetic testing is essential for diagnosing, predicting risk, and managing inherited cardiomyopathies.
  • Personalized medicine approaches, informed by genetic profiles, are key to optimizing patient care.
  • Further understanding of genetic, environmental, and lifestyle interactions is needed for precision care.

Keywords:
cardiomyopathiesgenetic testingguidelines

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