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. Key Words: restrictive cardiomyopathy, cardiac troponin T, myosin binding protein C, extracorporeal membrane oxygenation, ventricular assist-device, cardiac transplantation