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Risk Assessment and Personalized Treatment Options in Inherited Dilated Cardiomyopathies: A Narrative Review
Diana-Aurora Arnautu1,2, Dragos Cozma3, Ioan-Radu Lala4
1Multidisciplinary Heart Research Center, Victor Babes University of Medicine and Pharmacy, 300041 Timisoara, Romania.
Insights
Understanding genetic dilated cardiomyopathy (DCM) is key to improving heart failure outcomes. Identifying genetic variants aids in risk assessment and personalized treatment strategies for patients and families.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Genomic Medicine
Background:
- Heart failure, particularly dilated cardiomyopathy (DCM), poses a significant global health burden.
- DCM, the most common cardiomyopathy, involves ventricular enlargement and reduced contractility, with complex genetic and non-genetic origins.
- Advances in understanding the molecular mechanisms of DCM are crucial for developing effective interventions.
Purpose of the Study:
- To highlight the importance of identifying genetic causes of DCM.
- To explore genotype-phenotype correlations and risk stratification in hereditary DCM.
- To emphasize the potential of personalized, genotype-guided therapy for DCM.
Main Methods:
- Review of current literature on genetic variants in DCM.
- Analysis of genotype-phenotype relationships in familial and sporadic DCM.
- Discussion of the role of genetic testing in patient selection and family screening.
Main Results:
- Genetic variants are significant contributors to DCM etiology and susceptibility.
- DCM exhibits a wide spectrum of phenotypic variability influenced by genetic factors.
- Genetic testing can identify individuals who may benefit from targeted interventions.
Conclusions:
- Identifying genetic DCM is essential for accurate diagnosis and prognosis.
- Understanding genetic underpinnings facilitates personalized risk assessment and management strategies.
- Genotype-guided treatment approaches and disease-modifying medications hold promise for improving DCM outcomes.
Abstract:
Considering the worldwide impact of heart failure, it is crucial to develop approaches that can help us comprehend its root cause and make accurate predictions about its outcome. This is essential for lowering the suffering and death rates connected with this widespread illness. Cardiomyopathies frequently result from genetic factors, and the study of heart failure genetics is advancing quickly. Dilated cardiomyopathy (DCM) is the most prevalent kind of cardiomyopathy, encompassing both genetic and nongenetic abnormalities. It is distinguished by the enlargement of the left ventricle or both ventricles, accompanied by reduced contractility. The discovery of the molecular origins and subsequent awareness of the molecular mechanism is broadening our knowledge of DCM development. Additionally, it emphasizes the complicated nature of DCM and the necessity to formulate several different strategies to address the diverse underlying factors contributing to this disease. Genetic variants that can be transmitted from one generation to another can be a significant contributor to causing family or sporadic hereditary DCM. Genetic variants also play a significant role in determining susceptibility for acquired triggers for DCM. The genetic causes of DCM can have a large range of phenotypic expressions. It is crucial to select patients who are most probable to gain advantages from genetic testing. The purpose of this research is to emphasize the significance of identifying genetic DCM, the relationships between genotype and phenotype, risk assessment, and personalized therapy for both those affected and their relatives. This approach is expected to gain importance once treatment is guided by genotype-specific advice and disease-modifying medications.
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