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

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From: Pediatrics(Vol. 117, Issue 5)
Publisher: American Academy of Pediatrics
Document Type: Disease/Disorder overview
Length: 2,536 words
Lexile Measure: 1800L

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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

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Gale Document Number: GALE|A146122813