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

Nazima Khatun; Sahil Zaveri; Louis Salciccioli; Sabu John

doi:10.7759/cureus.40560

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

Cureus. 2023 Jun 17;15(6):e40560. doi: 10.7759/cureus.40560. eCollection 2023 Jun.

Authors

Nazima Khatun¹, Sahil Zaveri¹, Louis Salciccioli², Sabu John³

Affiliations

¹ Internal Medicine, State University of New York Downstate Medical Center, Brooklyn, USA.
² Cardiovascular Disease, State University of New York Downstate Medical Center, Brooklyn, USA.
³ Cardiology, Kings County Hospital Center, Brooklyn, USA.

Abstract

Desmin (DES) maintains the overall structure of cardiomyocytes and cytoskeletal organization within striated muscle cells. Mitochondrial thioredoxin reductase 2 (TXNRD-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 DES and TXNRD-2 genes.

Keywords: desmin; dilated cardiomyopathy (dcm); heart failure with reduced ejection fraction; rare genetic mutation; thioredoxin reductase 2.

Publication types

Case Reports