Literature DB >> 16651346

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

Stacie B Peddy1, Luca A Vricella, Jane E Crosson, Gretchen L Oswald, Ronald D Cohn, Duke E Cameron, David Valle, Bart L Loeys.   

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.

Entities:  

Mesh:

Substances:

Year:  2006        PMID: 16651346     DOI: 10.1542/peds.2005-2301

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  27 in total

Review 1.  Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all.

Authors:  Thomas E Callis; Brian C Jensen; Karen E Weck; Monte S Willis
Journal:  Expert Rev Mol Diagn       Date:  2010-04       Impact factor: 5.225

2.  Pathogenesis associated with a restrictive cardiomyopathy mutant in cardiac troponin T is due to reduced protein stability and greatly increased myofilament Ca2+ sensitivity.

Authors:  Michelle S Parvatiyar; Jose Renato Pinto
Journal:  Biochim Biophys Acta       Date:  2014-11-01

3.  Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.

Authors:  Colleen Caleshu; Rahul Sakhuja; Robert L Nussbaum; Nelson B Schiller; Philip C Ursell; Celeste Eng; Teresa De Marco; Dana McGlothlin; Esteban González Burchard; J Eduardo Rame
Journal:  Am J Med Genet A       Date:  2011-08-05       Impact factor: 2.802

Review 4.  Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies.

Authors:  Babken Asatryan; Argelia Medeiros-Domingo
Journal:  J Mol Med (Berl)       Date:  2018-08-20       Impact factor: 4.599

Review 5.  Genetic evaluation of familial cardiomyopathy.

Authors:  Daniel P Judge; Nicole M Johnson
Journal:  J Cardiovasc Transl Res       Date:  2008-04-22       Impact factor: 4.132

6.  Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach.

Authors:  Jose Renato Pinto; Shi Wei Yang; Marc-Phillip Hitz; Michelle S Parvatiyar; Michelle A Jones; Jingsheng Liang; Victor Kokta; Mario Talajic; Nicolas Tremblay; Michelle Jaeggi; Gregor Andelfinger; James D Potter
Journal:  J Biol Chem       Date:  2011-04-18       Impact factor: 5.157

Review 7.  Cardiac troponin mutations and restrictive cardiomyopathy.

Authors:  Michelle S Parvatiyar; Jose Renato Pinto; David Dweck; James D Potter
Journal:  J Biomed Biotechnol       Date:  2010-06-08

Review 8.  TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.

Authors:  Bin Wei; J-P Jin
Journal:  Gene       Date:  2016-01-13       Impact factor: 3.688

9.  Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI.

Authors:  Jianfeng Du; Jing Liu; Han-Zhong Feng; M M Hossain; Nariman Gobara; Chi Zhang; Yuejin Li; Pierre-Yves Jean-Charles; Jian-Ping Jin; Xu-Pei Huang
Journal:  Am J Physiol Heart Circ Physiol       Date:  2008-04-11       Impact factor: 4.733

10.  Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.

Authors:  Fan Bai; Hannah M Caster; Jose R Pinto; Masataka Kawai
Journal:  Biophys J       Date:  2013-05-07       Impact factor: 4.033

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.