Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene

Stacie B. Peddy, Luca A. Vricella, Jane E. Crosson, Gretchen L. Oswald, Ronald D. Cohn, Duke E. Cameron, David Valle, Bart L. Loeys

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1830-1833
Number of pages4
JournalPediatrics
Volume117
Issue number5
DOIs
StatePublished - May 1 2006

Keywords

  • Cardiac transplantation
  • Cardiac troponin T
  • Extracorporeal membrane oxygenation
  • Myosin binding protein C
  • Restrictive cardiomyopathy
  • Ventricular assist-device

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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