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

Stacie B. Peddy; Luca A. Vricella; Jane E. Crosson; Gretchen L. Oswald; Ronald D. Cohn; Duke E. Cameron; David Valle; Bart L. Loeys

doi:10.1542/peds.2005-2301

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

Stacie B. Peddy, Luca A. Vricella, Jane E. Crosson, Gretchen L. Oswald, Ronald D. Cohn, Duke E. Cameron, David Valle, Bart L. Loeys

Johns Hopkins Hospital

Research output: Contribution to journal › Article › peer-review

52 Scopus citations

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.

Original language	English (US)
Pages (from-to)	1830-1833
Number of pages	4
Journal	Pediatrics
Volume	117
Issue number	5
DOIs	https://doi.org/10.1542/peds.2005-2301
State	Published - May 2006

Keywords

Cardiac transplantation
Cardiac troponin T
Extracorporeal membrane oxygenation
Myosin binding protein C
Restrictive cardiomyopathy
Ventricular assist-device

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1542/peds.2005-2301

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title = "Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene",

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.",

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author = "Peddy, {Stacie B.} and Vricella, {Luca A.} and Crosson, {Jane E.} and Oswald, {Gretchen L.} and Cohn, {Ronald D.} and Cameron, {Duke E.} and David Valle and Loeys, {Bart L.}",

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AU - Peddy, Stacie B.

AU - Vricella, Luca A.

AU - Crosson, Jane E.

AU - Oswald, Gretchen L.

AU - Cohn, Ronald D.

AU - Cameron, Duke E.

AU - Valle, David

AU - Loeys, Bart L.

PY - 2006/5

Y1 - 2006/5

N2 - 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.

AB - 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.

KW - Cardiac transplantation

KW - Cardiac troponin T

KW - Extracorporeal membrane oxygenation

KW - Myosin binding protein C

KW - Restrictive cardiomyopathy

KW - Ventricular assist-device

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

Abstract

Keywords

ASJC Scopus subject areas

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