Genetics of cardiomyopathies: dilated cardiomyopathy

Abstract

Dilated cardiomyopathy is a complex disorder with genetic factors being responsible for up to 35% of all cases. With the knowledge about the different disease genes and methods for comprehensive genotyping, genetic testing of patients with dilated cardiomyopathy is already of high clinical utility. In recent studies, the detection rate for causal variants approaches 30–50% of investigated probands, which allows clinicians to consolidate diagnosis, perform cascade genetic testing, and identify patients with substantial risk for sudden cardiac death. Pivotal for dilated cardiomyopathy research of the next decade will be the careful and unified phenotyping in international consortia, accompanied by comprehensive genotyping using established next-generation sequencing methods. To reliably link the phenotypic expression with the individuality of the genotypes of each proband, new strategies such as multi-omics studies, functional in vitro testing, induced pluripotent stem cell systems, and computer simulations are required.