Published online May 1, 2006
PEDIATRICS Vol. 117 No. 5 May 2006, pp. 1830-1833 (doi:10.1542/peds.2005-2301)
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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.


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