Genetic evaluation of dilated cardiomyopathy identifies a genetic etiology in 20-35% of patients, enabling improved risk stratification and identification of at-risk family members.
Genetic testing in dilated cardiomyopathy allows for improved risk stratification, identification of at-risk family members, and insights into personalized therapies.
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Dilated cardiomyopathy (DCM) is a common cause of heart failure and is the primary indication for heart transplantation. A genetic etiology can be found in 20-35% of patients with DCM, especially in those with a family history of cardiomyopathy or sudden cardiac death at an early age. With advancements in genome sequencing, the understanding of genotype-phenotype relationships in DCM has expanded with over 60 genes implicated in the disease. Subsequently, these findings have increased adoption of genetic testing in the management of DCM, which has allowed for improved risk stratification and identification of at risk family members. In this review, we discuss the genetic evaluation of DCM with a focus on practical genetic testing considerations, genotype-phenotype associations, and insights into upcoming personalized therapies.
Bui et al. (Sat,) reported a other. Genetic evaluation of dilated cardiomyopathy identifies a genetic etiology in 20-35% of patients, enabling improved risk stratification and identification of at-risk family members.
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