Genetic Insights Into Cardiomyopathy With Restrictive Phenotype: Implications for Diagnosis and Personalized Care

Background

Cardiomyopathy with a restrictive phenotype is uncommon, genetically heterogeneous, and difficult to distinguish from advanced hypertrophic or dilated cardiomyopathy. We aimed primarily to determine the diagnostic yield and spectrum of pathogenic or likely pathogenic variants among patients with an echocardiographically defined restrictive phenotype; genotype-imaging and survival comparisons were prespecified exploratory analyses.

Methods

We screened 568 patients with cardiomyopathy who underwent whole-exome sequencing and comprehensive echocardiography. Thirty-three met the operational definition of restrictive phenotype. Variants were classified. Genotype-imaging associations and survival were analyzed exploratorily.

Results