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Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review. | LitMetric

Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review.

Medicina (Kaunas)

Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy, "Victor Babeș" Eftimie Murgu Sq., 300041 Timisoara, Romania.

Published: March 2024

: Cardiomyopathies (CMs) represent a heterogeneous group of primary myocardial diseases characterized by structural and functional abnormalities. They represent one of the leading causes of cardiac transplantations and cardiac death in young individuals. Clinically they vary from asymptomatic to symptomatic heart failure, with a high risk of sudden cardiac death due to malignant arrhythmias. With the increasing availability of genetic testing, a significant number of affected people are found to have an underlying genetic etiology. However, the awareness of the benefits of incorporating genetic test results into the care of these patients is relatively low. : The focus of this review is to summarize the current basis of genetic CMs, including the most encountered genes associated with the main types of cardiomyopathies: hypertrophic, dilated, restrictive arrhythmogenic, and non-compaction. : For this narrative review, we performed a search of multiple electronic databases, to select and evaluate relevant manuscripts. : Advances in genetic diagnosis led to better diagnosis precision and prognosis prediction, especially with regard to the risk of developing arrhythmias in certain subtypes of cardiomyopathies. : Implementing the genomic information to benefit future patient care, better risk stratification and management, promises a better future for genotype-based treatment.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11052121PMC
http://dx.doi.org/10.3390/medicina60040543DOI Listing

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