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Precision medicine applications in dilated cardiomyopathy: Advancing personalized care
Elina Khattab1, Michael M Myrianthefs1, Stefanos Sakellaropoulos2
1Cardiology Department, Nicosia General Hospital, State Health Services Organization, Nicosia, Cyprus.
Insights
Dilated cardiomyopathy (DCM) management is advancing with precision medicine, integrating multi-omics data and machine learning for better diagnosis and targeted therapies to improve patient outcomes.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Dilated cardiomyopathy (DCM) affects 1 in 250-500 individuals, causing ventricular dilation and heart failure.
- DCM has diverse causes, including genetic and environmental factors, leading to varied patient phenotypes.
- Current management strategies are often generalized, contributing to high morbidity and mortality.
Purpose of the Study:
- To review advancements in precision medicine for diagnosing and treating DCM.
- To highlight the role of genetic and multi-omics data in understanding DCM.
- To discuss emerging targeted therapies and risk stratification methods.
Main Methods:
- Comprehensive diagnostic evaluations.
- Integration of genomic, transcriptomic, proteomic, and metabolomic data (multi-omics).
- Application of machine learning for risk stratification.
Main Results:
- Precision medicine offers tailored diagnostic and therapeutic approaches for DCM.
- Multi-omics data enhances understanding of DCM pathophysiology.
- Machine learning improves disease progression prediction.
Conclusions:
- Precision medicine promises optimized diagnosis and treatment for DCM.
- Emerging therapies like genome editing and pharmacogenomics are transforming DCM care.
- Personalized approaches are crucial to reduce DCM's burden.
Abstract:
Dilated cardiomyopathy (DCM) is a prevalent cardiac disorder affecting 1 in 250-500 individuals, characterized by ventricular dilation and impaired systolic function, leading to heart failure and increased mortality, including sudden cardiac death. DCM arises from genetic and environmental factors, such as drug-induced, inflammatory, and viral causes, resulting in diverse yet overlapping phenotypes. Advances in precision medicine are revolutionizing DCM management by leveraging genetic and molecular profiling for tailored diagnostic and therapeutic approaches. This review highlights comprehensive diagnostic evaluations, genetic discoveries, and multi-omics approaches integrating genomic, transcriptomic, proteomic, and metabolomic data to enhance understanding of DCM pathophysiology. Innovative risk stratification methods, including machine learning, are improving predictions of disease progression. Despite these advancements, the current one-size-fits-all management strategy contributes to persistently high morbidity and mortality. Emerging targeted therapies, such as CRISPR/Cas9 genome editing, aetiology-specific interventions, and pharmacogenomics, are reshaping treatment paradigms. Precision medicine holds promise for optimizing DCM diagnosis, treatment, and outcomes, aiming to reduce the burden of this debilitating condition.

