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Updated: Dec 29, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts

Joe Brough1,2, Mahim Jain3, Teodoro Jerves1

  • 1Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|February 8, 2020
PubMed

Insights

Genetic screening for hypertrophic cardiomyopathy (HCM) in the military could save lives and be cost-effective. Key challenges include low detection rates and interpreting genetic variants.

Area of Science:

  • Cardiovascular Genetics
  • Preventive Medicine
  • Military Health

Background:

  • Sudden cardiac death (SCD) is a significant cause of mortality in U.S. military personnel and athletes.
  • Hypertrophic cardiomyopathy (HCM) is a primary genetic cause of SCD.
  • Current screening methods may not adequately identify individuals at risk for HCM-related SCD.

Purpose of the Study:

  • To simulate the implementation of genetic screening for HCM in the U.S. military.
  • To assess the potential impact of genetic screening on preventing SCD.
  • To evaluate the cost-effectiveness and feasibility of genetic screening for HCM in a military population.

Main Methods:

  • Developed a logistic regression model to predict variant pathogenicity in MYH7 and MYBPC3 genes.
  • Utilized the gnomAD database to determine the frequency of pathogenic variants.
  • Extrapolated findings to a military population to conduct lives saved and cost-benefit analyses.

Main Results:

  • Genetic screening for HCM is predicted to save an average of 2.9 lives per accession cohort.
  • The estimated break-even cost for screening is approximately $7 per test.
  • Predicted false positive rate (individuals disqualified without HCM) is zero per accession cohort.

Conclusions:

  • Genetic screening for HCM in the military shows potential for saving lives and being cost-effective.
  • Low detection rates and challenges in variant interpretation are identified as primary barriers to implementation.
  • Further research into improving detection and interpretation is recommended for successful integration into military health protocols.

Keywords:
genetic screeninghypertrophic cardiomyopathypopulation geneticsvariant classification

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