Published online May 1, 2006
PEDIATRICS Vol. 117 No. 5 May 2006, pp. 1830-1833 (doi:10.1542/peds.2005-2301)
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via ISI Web of Science (2)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Peddy, S. B.
Right arrow Articles by Loeys, B. L.
Right arrow Search for Related Content
PubMed
Right arrow Articles by Peddy, S. B.
Right arrow Articles by Loeys, B. L.
Related Collections
Right arrow Heart & Blood Vessels

EXPERIENCE AND REASON

Infantile Restrictive Cardiomyopathy Resulting From a Mutation in the Cardiac Troponin T Gene

Stacie B. Peddy, MDa, Luca A. Vricella, MDb, Jane E. Crosson, MDa, Gretchen L. Oswald, MS, CGCc, Ronald D. Cohn, MDc, Duke E. Cameron, MDb, David Valle, MDc and Bart L. Loeys, MD, PhDc

a Departments of Pediatric Cardiology
b Cardiac Surgery and
c McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland

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

Abbreviations: RCM, restrictive cardiomyopathy • ECG, electrocardiogram • ECHO, echocardiogram • ECMO, extracorporeal membrane oxygenation • VAD, biventricular assist device • HCM, hypertrophic cardiomyopathy • DCM, dilated cardiomyopathy

Accepted Oct 26, 2005.




This article has been cited by other articles:


Home page
 HeartHome page
J P Kaski, P Syrris, M Burch, M-T Tome-Esteban, M Fenton, M Christiansen, P S Andersen, N Sebire, M Ashworth, J E Deanfield, et al.
Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes
Heart, November 1, 2008; 94(11): 1478 - 1484.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Physiol. Heart Circ. Physiol.Home page
J. Du, J. Liu, H.-Z. Feng, M. M. Hossain, N. Gobara, C. Zhang, Y. Li, P.-Y. Jean-Charles, J.-P. Jin, and X.-P. Huang
Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI
Am J Physiol Heart Circ Physiol, June 1, 2008; 294(6): H2604 - H2613.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
J. R. Pinto, M. S. Parvatiyar, M. A. Jones, J. Liang, and J. D. Potter
A Troponin T Mutation That Causes Infantile Restrictive Cardiomyopathy Increases Ca2+ Sensitivity of Force Development and Impairs the Inhibitory Properties of Troponin
J. Biol. Chem., January 25, 2008; 283(4): 2156 - 2166.
[Abstract] [Full Text] [PDF]