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...

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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
Descripción
Sumario: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.)

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