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Updated: Jul 6, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Genetic Testing in Hypertrophic Cardiomyopathy

Catherine G Ireland1, Carolyn Y Ho1

  • 1Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, Massachusetts.

The American Journal of Cardiology
|February 17, 2024
PubMed

Insights

Genetic testing aids hypertrophic cardiomyopathy (HCM) diagnosis and management by identifying causative variants. This genetic information is crucial for accurate diagnosis, family screening, and personalized patient care.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Diagnostics

Background:

  • Hypertrophic cardiomyopathy (HCM) diagnosis and management benefit significantly from genetic testing.
  • Identifying causative genetic variants is key to understanding disease mechanisms and inheritance patterns.

Purpose of the Study:

  • To outline the role and utility of genetic testing in hypertrophic cardiomyopathy (HCM).
  • To discuss the implications of genetic testing for patient diagnosis, family screening, and clinical management.

Main Methods:

  • Review of current genetic testing methodologies for HCM.
  • Analysis of variant identification rates and their clinical significance.
  • Discussion of genetic counseling and interpretation of results.

Main Results:

  • Modern genetic testing identifies causative variants in 30% to over 60% of HCM patients.
  • Test positivity is influenced by patient characteristics, such as family history.
  • Positive results clarify diagnosis and facilitate targeted family screening.

Conclusions:

  • Genetic testing is an essential tool for diagnosing and managing HCM patients and their families.
  • Interpreting genetic test results requires expertise and multidisciplinary collaboration.
  • Predictive testing in at-risk family members aids in risk stratification and screening decisions.

Keywords:
HCMgeneticsphenocopiessarcomere

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