title: Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier.
abstract: Here, we report an infantile case of ventricular septal defect and restrictive cardiomyopathy caused by a de novo mutation of the cardiac troponin T gene. Initially diagnosed with a perimembranous ventricular septal defect in the newborn period, we observed the first signs of restrictive cardiomyopathy at the age of 18 months. The patient was listed for cardiac transplantation at the age of 8 years despite optimal medical treatment. The finding of a de novo mutation in TNNI3 (R204H) enabled a genetic diagnosis and counselling. We suggest that the previously reported overlap of functional and morphologic phenotypes in sarcomeric genes may also be a feature of TNNI3 mutations.
authors.affiliation: Department of Pediatrics, Sainte Justine Hospital, University of Montréal, Quebec, Canada.
authors.forename: Shi Wei
authors.initials: SW
authors.lastname: Yang
authors.forename: Marc-Phillip
authors.initials: MP
authors.lastname: Hitz
authors.forename: Gregor
authors.initials: G
authors.lastname: Andelfinger
mesh_terms: D006328:Cardiac Catheterization; D002313:Cardiomyopathy, Restrictive / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D003937:Diagnosis, Differential; D018619:Echocardiography, Doppler, Pulsed; D005260:Female; D005500:Follow-Up Studies; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D020930:MAP Kinase Kinase Kinases / Q000235:genetics*; D019028:Magnetic Resonance Imaging, Cine; D008854:Microscopy, Electron; D020125:Mutation, Missense; D009206:Myocardium / Q000648:ultrastructure; D017346:Protein Serine-Threonine Kinases
chemical_list: D004247:DNA; D017346:Protein Serine-Threonine Kinases; C481078:TNNI3K protein, human; D020930:MAP Kinase Kinase Kinases