RGD Reference Report - Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. - Rat Genome Database

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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.
RGD ID: 1580232
Pubmed: PMID:16651346   (View Abstract at PubMed)
DOI: DOI:10.1542/peds.2005-2301   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Objects Annotated

Genes (Rattus norvegicus)
Tnnt2  (troponin T2, cardiac type)

Genes (Mus musculus)
Tnnt2  (troponin T2, cardiac)

Genes (Homo sapiens)
TNNT2  (troponin T2, cardiac type)

Objects referenced in this article
Gene MYBPC3 myosin binding protein C3 Homo sapiens
Gene Mybpc3 myosin binding protein C, cardiac Mus musculus
Gene Mybpc3 myosin binding protein C3 Rattus norvegicus

Additional Information