Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene.
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.
Peddy
Stacie B
SB
Department of Pediatric Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Vricella
Luca A
LA
Crosson
Jane E
JE
Oswald
Gretchen L
GL
Cohn
Ronald D
RD
Cameron
Duke E
DE
Valle
David
D
Loeys
Bart L
BL
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
D002352:Carrier Proteins; D009218:Myosins; D020107:Troponin T; D000099163:Myosin Binding Protein C