Infantile Restrictive Cardiomyopathy Resulting From a Mutation in the Cardiac Troponin T Gene
- 1 May 2006
- journal article
- case report
- Published by American Academy of Pediatrics (AAP)
- Vol. 117 (5), 1830-1833
- https://doi.org/10.1542/peds.2005-2301
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.Keywords
This publication has 15 references indexed in Scilit:
- MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathyBiochemical and Biophysical Research Communications, 2005
- Clinical and genetic issues in familial dilated cardiomyopathyJournal of the American College of Cardiology, 2005
- Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic propertiesJournal of Molecular and Cellular Cardiology, 2004
- Identification of the genotypes causing hypertrophic cardiomyopathy in northern SwedenJournal of Molecular and Cellular Cardiology, 2003
- Alterations in Thin Filament Regulation Induced by a Human Cardiac Troponin T Mutant That Causes Dilated Cardiomyopathy Are Distinct from Those Induced by Troponin T Mutants That Cause Hypertrophic CardiomyopathyPublished by Elsevier BV ,2002
- Clinical spectrum of restrictive cardiomyopathy in childrenThe Journal of Heart and Lung Transplantation, 2001
- Sudden Death and Cardiovascular Collapse in Children With Restrictive CardiomyopathyCirculation, 2000
- The Origins of Hypertrophic Cardiomyopathy–Causing Mutations in Two South African Subpopulations: A Unique Profile of Both Independent and Founder EventsAmerican Journal of Human Genetics, 1999
- Restrictive CardiomyopathyNew England Journal of Medicine, 1997
- Relation of transmitral flow velocity patterns to left ventricular diastolic function: New insights from a combined hemodynamic and Doppler echocardiographic studyJournal of the American College of Cardiology, 1988