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

Pediatrics. 2006 May;117(5):1830-3. doi: 10.1542/peds.2005-2301.

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.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathy, Restrictive / genetics*
  • Carrier Proteins / genetics
  • Female
  • Heart Transplantation
  • Heart-Assist Devices
  • Humans
  • Infant
  • Mutation*
  • Myosins
  • Troponin T / genetics*

Substances

  • Carrier Proteins
  • Troponin T
  • myosin-binding protein C
  • Myosins