RCM_Data

Restrictive cardiomyopathy (RCM) is a rare myocardial disorder characterized by normal chamber size and thickness with impaired ventricular filling due to diastolic dysfunction. Pediatric RCM has limited therapeutic approaches, and the etiology is often unknown. To investigate causation of RCM, we performed exome, mRNA- and small RNA-sequencing analyses using explanted left ventricular heart tissue from pediatric RCM transplant subjects and compared them to pediatric controls. Results from short variant (SNVs and small insertions/deletions) and transcriptomic analyses provide new insights into the genetic landscape and its regulation in pediatric RCM.