Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?

ABSTRACT: Myocarditis is an inflammatory disease of the heart. Pediatric myocarditis with the dilated cardiomyopathy (DCM) phenotype may be caused by likely pathogenic or pathogenic genetic variants [(L)P] in cardiomyopathy (CMP) genes. Systematic analysis of immune disorder gene defects has not been performed so far. We analyzed 12 patients with biopsy-proven myocarditis and the DCM phenotype together with their parents using whole-exome sequencing (WES). The WES data were filtered for rare pathogenic variants in CMP (n = 89) and immune disorder genes (n = 631). Twelve children with a median age of 2.9 (1.0-6.8) years had a mean left ventricular ejection fraction of 28% (22-32%) and myocarditis was confirmed by endomyocardial biopsy. Patients with primary immunodeficiency were exclude

SUBMITTER: Seidel F 

PROVIDER: S-EPMC9321514 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature