What is the prevalence of pathogenic/likely pathogenic variants in DCM-associated genes among patients with DCM and a systemic immune-mediated disease?
Genetic testing is valuable in patients with immune-mediated DCM, as 1 in 6 have an underlying pathogenic variant, suggesting autoimmunity may unmask a genetic DCM phenotype.
One in 6 DCM patients with an SID has an underlying P/LP variant in a DCM-associated gene. This highlights the role of genetic testing in those patients with immune-mediated DCM, and supports the concept that autoimmunity may play a role in unveiling a DCM phenotype in genotype-positive individuals.
Stroeks et al. (Wed,) studied this question.