title: Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene.
abstract: Here we report the first infantile case of restrictive cardiomyopathy caused by a de novo mutation of the cardiac troponin T gene. The patient presented with an apparent life-threatening event. She developed malignant arrhythmias and hemodynamic instability, requiring initial rescue support with extracorporeal membrane oxygenation, and subsequently underwent insertion of a biventricular assist device (VAD). She successfully received an orthotopic heart transplant 172 days after VAD implantation.
authors.affiliation: Department of Pediatric Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
authors.forename: Stacie B
authors.initials: SB
authors.lastname: Peddy
authors.forename: Luca A
authors.initials: LA
authors.lastname: Vricella
authors.forename: Jane E
authors.initials: JE
authors.lastname: Crosson
authors.forename: Gretchen L
authors.initials: GL
authors.lastname: Oswald
authors.forename: Ronald D
authors.initials: RD
authors.lastname: Cohn
authors.forename: Duke E
authors.initials: DE
authors.lastname: Cameron
authors.forename: David
authors.initials: D
authors.lastname: Valle
authors.forename: Bart L
authors.initials: BL
authors.lastname: Loeys
mesh_terms: D002313:Cardiomyopathy, Restrictive / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D016027:Heart Transplantation; D006353:Heart-Assist Devices; D006801:Humans; D007223:Infant; D009154:Mutation; D009218:Myosins; D020107:Troponin T / Q000235:genetics*; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D009218:Myosins; D020107:Troponin T; D000099163:Myosin Binding Protein C