Article
Challenges and Applications of Genetic Testing in Dilated Cardiomyopathy: Genotype, Phenotype and Clinical Implications.
Arquivos brasileiros de cardiologia - 1 Nov 2023
Furquim Silas Ramos, Linnenkamp Bianca, Olivetti Natália Quintella Sangiorgi, Giugni Fernando Rabioglio, Lipari Layara Fernanda Vicente Pereira, Andrade Fernanda Almeida, Krieger José Eduardo
Abstract excerpt
Genetic tests for dilated cardiomyopathy (DCM) have a diagnostic yield of up to 40%, but there is significant genetic heterogeneity and other challenges, such as variable expressivity and incomplete penetrance. Pedigree analysis is essential for distinguishing between sporadic and familial DCM cases by assessing family history. Familial DCM yields higher results in genetic testing, but sporadic DCM does not rule...
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