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Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data

M Alejandra Restrepo-Cordoba1, Oscar Campuzano2,3,4, Tomás Ripoll-Vera5

  • 1Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain.

Journal of Cardiovascular Translational Research
|February 1, 2017
PubMed

Insights

Genetic testing for hypertrophic cardiomyopathy (HCM) is not useful for predicting disease progression. However, it remains valuable for genetic counseling and cascade screening in families.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic heart condition with variable clinical outcomes.
  • Predicting HCM progression is crucial for patient management and therapeutic strategies.
  • The utility of genetic testing in predicting HCM evolution requires further investigation.

Purpose of the Study:

  • To evaluate the predictive value of genetic testing for hypertrophic cardiomyopathy (HCM) evolution.
  • To assess the role and impact of genetic testing in the clinical management of HCM patients.
  • To identify pathogenic mutations (PM) and their correlation with clinical course in HCM.

Main Methods:

  • Genetic analysis of 100 HCM patients across ≥10 HCM-associated genes.
  • Classification of patients into poor (Group A) and favorable (Group B) clinical course groups.
  • Evaluation of identified pathogenic mutations (PM) for novelty and frequency in databases.

Main Results:

  • Pathogenic mutations (PM) were identified in 56% of Group A and 46% of Group B patients (p=0.317).
  • Only 40% of patients had previously reported PM, and 15% had PM reported in ≥10 individuals.
  • PM associated with poor prognosis were found in only 10% of Group A patients.

Conclusions:

  • Genetic testing is currently not effective for predicting hypertrophic cardiomyopathy (HCM) prognosis.
  • Genetic testing is highly valuable for providing genetic counseling to HCM patients.
  • Genetic testing facilitates cascade genetic screening, aiding in early diagnosis within affected families.

Keywords:
Family screeningGeneticsHypertrophic cardiomyopathyMutationsPrognosis

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