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

Authors: Peddy, SB  Vricella, LA  Crosson, JE  Oswald, GL  Cohn, RD  Cameron, DE  Valle, D  Loeys, BL 
Citation: Peddy SB, etal., Pediatrics. 2006 May;117(5):1830-3.
Pubmed: (View Article at PubMed) PMID:16651346
DOI: Full-text: DOI:10.1542/peds.2005-2301

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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CRRD Object Information
CRRD ID: 1580232
Created: 2006-07-12
Species: All species
Last Modified: 2006-07-12
Status: ACTIVE


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