Related Experiment Video

Updated: Aug 6, 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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Precision and genomic medicine for dilated and hypertrophic cardiomyopathy

Seitaro Nomura1, Minoru Ono2

  • 1Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Frontiers in Cardiovascular Medicine
|March 23, 2023
PubMed

Insights

Cardiomyopathy arises from genetic and environmental factors. Advanced genetic research, including genome-wide and single-cell analyses, is crucial for understanding disease mechanisms and improving patient risk assessment.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiology

Background:

  • Cardiomyopathy results from complex genetic and environmental interactions.
  • Clinical presentations of dilated and hypertrophic cardiomyopathy vary widely.
  • Genetic testing identifies causative genes in approximately 50% of cases, aiding prognosis prediction.

Purpose of the Study:

  • To highlight the importance of genetic research in understanding cardiomyopathy.
  • To emphasize the role of both rare and common genetic variants in disease development.
  • To explore the potential of integrating genomic and single-cell analyses for improved disease stratification.

Main Methods:

  • Review of current genetic research in cardiomyopathy.
  • Discussion of genome-wide association studies (GWAS) for risk assessment.
  • Overview of single-cell analysis techniques for studying disease pathophysiology.

Main Results:

  • Genetic factors are key determinants of cardiomyopathy, involving single rare variants and combinations of common variants.
  • Genome-wide genetic research is essential for accurate disease risk assessment.
  • Single-cell analyses are rapidly advancing the understanding of cardiomyopathy pathophysiology.

Conclusions:

  • Genetic testing is vital for diagnosing and predicting the prognosis of cardiomyopathy.
  • A comprehensive understanding requires considering both rare and common genetic variants.
  • Combining genomic analysis with single-cell molecular profiling promises more precise cardiomyopathy stratification.

Keywords:
dilated cardiomyopathygeneticshypertrophic cardiomyopathyprecision medicinesingle-cell omics

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