Journal
PEDIATRICS
Volume 117, Issue 5, Pages 1830-1833Publisher
AMER ACAD PEDIATRICS
DOI: 10.1542/peds.2005-2301
Keywords
restrictive cardiomyopathy; cardiac troponin T; myosin binding protein C; extracorporeal membrane oxygenation; ventricular assist-device; cardiac transplantation
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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.
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