A Novel Dcm-Associated Mutation In The N-Helix Of Cardiac Troponin C Exhibits Impaired Contractile Kinetics And Reduced Ca2+ -Sensitivity In Vitro

Point mutations in genes encoding the subunits of the cardiac troponin complex are known to result in various forms of cardiomyopathy. We report a clinical case of a 1-year old female who presented in the neonatal period with severe dilated cardiomyopathy (DCM) and hypotonia. Whole-exome sequencing detected a previously unreported heterozygous variant of uncertain clinical significance in exon 1 of the TNNC1 gene, c.12Cu003eG (p.Ile4Met). This variant was not detected in the probandu0027s parents, suggesting that this variant has likely arisen de novo.