Incidentally identified variants in TTN-encoded titan found in children undergoing whole exome sequencing and association with Cardiomyopathy

Purpose: We sought to determine whether incidentally identified TTN-encoded titin variants were associated with development of pediatric cardiomyopathy. Background: TTN-encoded titan is the largest protein in the human body and is involved in structural and mechanical development in skeletal and cardiac muscle. Mutations in this gene have been linked to cardiomyopathy (CM), particularly truncating mutations (TTNtv). Conversely, recent evidence has …