Novel Loss of Function in the AGK Gene: Rare Cause of End-Stage Heart Failure

The authors present a case of mitochondrial cardiomyopathy due to a novel mutation of AGK gene that led to progressive heart failure. The cardiac magnetic resonance image findings of diffusely elevated relaxation time and increase in extracellular volume in the myocardium without early or late gadol...

Descripción completa

Detalles Bibliográficos
Autores principales: Das, Bibhuti B., Hernandez, Lazaro E., Jayakar, Parul, Chatfield, Kathryn C., Chrisant, Maryanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8288697/
https://www.ncbi.nlm.nih.gov/pubmed/34316732
http://dx.doi.org/10.1016/j.jaccas.2019.05.007
_version_ 1783724137451094016
author Das, Bibhuti B.
Hernandez, Lazaro E.
Jayakar, Parul
Chatfield, Kathryn C.
Chrisant, Maryanne
author_facet Das, Bibhuti B.
Hernandez, Lazaro E.
Jayakar, Parul
Chatfield, Kathryn C.
Chrisant, Maryanne
author_sort Das, Bibhuti B.
collection PubMed
description The authors present a case of mitochondrial cardiomyopathy due to a novel mutation of AGK gene that led to progressive heart failure. The cardiac magnetic resonance image findings of diffusely elevated relaxation time and increase in extracellular volume in the myocardium without early or late gadolinium enhancement may suggest mitochondrial cardiomyopathy. The authors emphasized the multidisciplinary team approach in the care of patients with mitochondrial cardiomyopathies. (Level of Difficulty: Advanced.)
format Online
Article
Text
id pubmed-8288697
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-82886972021-07-26 Novel Loss of Function in the AGK Gene: Rare Cause of End-Stage Heart Failure Das, Bibhuti B. Hernandez, Lazaro E. Jayakar, Parul Chatfield, Kathryn C. Chrisant, Maryanne JACC Case Rep Case Report The authors present a case of mitochondrial cardiomyopathy due to a novel mutation of AGK gene that led to progressive heart failure. The cardiac magnetic resonance image findings of diffusely elevated relaxation time and increase in extracellular volume in the myocardium without early or late gadolinium enhancement may suggest mitochondrial cardiomyopathy. The authors emphasized the multidisciplinary team approach in the care of patients with mitochondrial cardiomyopathies. (Level of Difficulty: Advanced.) Elsevier 2019-06-19 /pmc/articles/PMC8288697/ /pubmed/34316732 http://dx.doi.org/10.1016/j.jaccas.2019.05.007 Text en © 2019 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Das, Bibhuti B.
Hernandez, Lazaro E.
Jayakar, Parul
Chatfield, Kathryn C.
Chrisant, Maryanne
Novel Loss of Function in the AGK Gene: Rare Cause of End-Stage Heart Failure
title Novel Loss of Function in the AGK Gene: Rare Cause of End-Stage Heart Failure
title_full Novel Loss of Function in the AGK Gene: Rare Cause of End-Stage Heart Failure
title_fullStr Novel Loss of Function in the AGK Gene: Rare Cause of End-Stage Heart Failure
title_full_unstemmed Novel Loss of Function in the AGK Gene: Rare Cause of End-Stage Heart Failure
title_short Novel Loss of Function in the AGK Gene: Rare Cause of End-Stage Heart Failure
title_sort novel loss of function in the agk gene: rare cause of end-stage heart failure
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8288697/
https://www.ncbi.nlm.nih.gov/pubmed/34316732
http://dx.doi.org/10.1016/j.jaccas.2019.05.007
work_keys_str_mv AT dasbibhutib novellossoffunctionintheagkgenerarecauseofendstageheartfailure
AT hernandezlazaroe novellossoffunctionintheagkgenerarecauseofendstageheartfailure
AT jayakarparul novellossoffunctionintheagkgenerarecauseofendstageheartfailure
AT chatfieldkathrync novellossoffunctionintheagkgenerarecauseofendstageheartfailure
AT chrisantmaryanne novellossoffunctionintheagkgenerarecauseofendstageheartfailure

Ejemplares similares