A Rare Case of Coexisting Mutation in Desmin and Thioredoxin Reductase 2 Genes Causing Dilated Cardiomyopathy

Desmin ( ) maintains the overall structure of cardiomyocytes and cytoskeletal organization within striated muscle cells. Mitochondrial thioredoxin reductase 2 ( ) is essential for mitochondrial oxygen radical scavenging. We describe a rare case of dilated cardiomyopathy (DCM) in an 18-year-old femal...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2023-06, Vol.15 (6), p.e40560
Main Authors: Khatun, Nazima, Zaveri, Sahil, Salciccioli, Louis, John, Sabu
Format: Article
Language:English
Subjects:
Biopsy
Blood
Cardiac arrhythmia
Cardiology
Cardiomyopathy
Case reports
Coronaviruses
COVID-19
Creatinine
Diagnostic tests
Ejection fraction
Electrocardiography
Genes
Heart failure
Internal Medicine
Iron
Kinases
Mutation
Myocarditis
Peptides
Proteins
Sinuses
Citations: Items that this one cites
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Description
Summary:Desmin ( ) maintains the overall structure of cardiomyocytes and cytoskeletal organization within striated muscle cells. Mitochondrial thioredoxin reductase 2 ( ) is essential for mitochondrial oxygen radical scavenging. We describe a rare case of dilated cardiomyopathy (DCM) in an 18-year-old female with a heterozygous mutation involving both and genes.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.40560