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Published on: August 8, 2022
Clinical Implication of Genetic Testing in Dilated Cardiomyopathy
Ju-Hee Lee1,2, Sang Eun Lee3, Myeong-Chan Cho4
1Division of Healthcare and Artificial Intelligence, Department of Precision Medicine, National Institute of Health, Cheongju, Korea.
Genetic testing is crucial for diagnosing and managing dilated cardiomyopathy (DCM), a common cause of heart failure. This review guides the clinical application of genetic insights in DCM patients and families.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Dilated cardiomyopathy (DCM) is a primary cause of heart failure (HF).
- Advances in genetic analysis highlight the importance of genetic testing for DCM.
- Genetic variants are increasingly identified and utilized for DCM patient management.
Purpose of the Study:
- To review current knowledge of DCM genetics.
- To provide a practical, evidence-based guide for genetic testing in DCM.
- To address challenges in clinical application of genetic testing for DCM.
Main Methods:
- Literature review of recent advancements in DCM genetics.
- Synthesis of evidence for genetic testing in DCM diagnosis and risk stratification.
- Analysis of challenges and practical considerations for clinical implementation.
Main Results:
- Numerous genetic variants linked to DCM have been identified.
- Genetic testing aids in DCM diagnosis, risk assessment, and family screening.
- Current challenges exist in translating genetic findings into routine clinical practice.
Conclusions:
- Genetic testing is integral to modern DCM management.
- Understanding DCM genetics improves patient care and family screening.
- Further efforts are needed to overcome barriers to clinical genetic testing adoption.
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