Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2025 Sep 21.
doi: 10.1111/cge.70072. Online ahead of print.

Precision Medicine in Cardiomyopathy: Advances and Future Directions

Mahvish Mehdi  1 , Sushma Verma  1 , Bashir Ahmad Mir  2 , Shrikant Verma  1 , Aliya Abbas Rizvi  1 , Asma Imran Ansari  1 , Mohammad Abbas  1 , Farzana Mahdi  1
Affiliations
Review

Precision Medicine in Cardiomyopathy: Advances and Future Directions

Mahvish Mehdi et al. Clin Genet. .

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.

PubMed Disclaimer

References

    1. K. H. Rehfeldt, W. J. Mauermann, G. A. Nuttall, and W. C. Oliver, “Cardiomyopathies,” in Perioperative Transesophageal Echocardiography (Elsevier, 2014), 167–190, https://doi.org/10.1016/B978‐1‐4557‐0761‐4.00018‐9.
    1. M. J. Kim, S. Cha, J. S. Baek, et al., “Genetic Heterogeneity of Cardiomyopathy and Its Correlation With Patient Care,” BMC Medical Genomics 16, no. 1 (2023): 270, https://doi.org/10.1186/s12920‐023‐01639‐z.
    1. R. Cardoso and K. Nasir, “Primary Prevention of Cardiovascular Disease: 2019 and Beyond,” Nature Reviews. Cardiology 16, no. 7 (2019): 387–388, https://doi.org/10.1038/s41569‐019‐0213‐2.
    1. R. K. Wexler, T. Elton, A. Pleister, and D. Feldman, “Cardiomyopathy: An Overview,” American Family Physician 79, no. 9 (2009): 778–784.
    1. B. J. Maron, J. A. Towbin, G. Thiene, et al., “Contemporary Definitions and Classification of the Cardiomyopathies: An American Heart Association Scientific Statement From the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functio,” Circulation 113, no. 14 (2006): 1807–1816, https://doi.org/10.1161/CIRCULATIONAHA.106.174287.