Precision Medicine in Cardiomyopathy: Advances and Future Directions

Clin Genet. 2025 Dec;108(6):641-653. doi: 10.1111/cge.70072. Epub 2025 Sep 21.

Abstract

This review explores how precision medicine is transforming the diagnosis, classification, and treatment of cardiomyopathies. It focuses on the integration of genetic profiling, biomarkers, and imaging to deliver more tailored and effective care. We review major cardiomyopathy subtypes: hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular, with a focus on genetic drivers, including mitochondrial mutations. Pediatric forms are discussed in the context of syndromic and non-syndromic differences. We highlight the clinical value of combining biomarkers (molecular and serological) with imaging modalities, such as echocardiography, for better risk stratification, especially in predicting sudden cardiac death. The utility of animal models in translating genetic findings into disease understanding is also emphasized. Finally, we touch on innovations like genome editing, gene therapies, and pharmacogenomics for personalized treatment. Precision medicine offers a promising future for cardiomyopathy care. By targeting the underlying causes and tailoring treatment to each patient's genetic and molecular profile, we can achieve more accurate diagnoses, better risk prediction, and improved outcomes, bringing us closer to truly individualized cardiovascular care.

Keywords: biomarker; cardiomyopathy; genetic mutation; genome editing; molecular diagnostics; personalized medicine.

Publication types

  • Review

MeSH terms

  • Animals
  • Biomarkers
  • Cardiomyopathies* / diagnosis
  • Cardiomyopathies* / genetics
  • Cardiomyopathies* / therapy
  • Genetic Therapy
  • Humans
  • Precision Medicine* / methods
  • Precision Medicine* / trends

Substances

  • Biomarkers