The Genetic Evaluation of Dilated Cardiomyopathy

Quan M Bui; Jeffrey Ding; Kimberly N Hong; Eric A Adler

doi:10.1016/j.shj.2023.100200

The Genetic Evaluation of Dilated Cardiomyopathy

Struct Heart. 2023 Jul 15;7(5):100200. doi: 10.1016/j.shj.2023.100200. eCollection 2023 Sep.

Authors

Quan M Bui¹, Jeffrey Ding², Kimberly N Hong¹, Eric A Adler¹

Affiliations

¹ Division of Cardiovascular Medicine, Department of Medicine, University of California, San Diego, La Jolla, California, USA.
² University of California San Diego School of Medicine, La Jolla, California, USA.

Abstract

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.

Keywords: Arrhythmias; Cardiovascular genetics; Dilated cardiomyopathy; Genetic cardiomyopathy; Genetic testing; Heart failure.

Publication types

Review