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Severe conduction block and cardiomyopathy associated with desminopathy

Published online by Cambridge University Press:  14 March 2025

Ningning Sun Open the ORCID record for Ningning Sun [Opens in a new window] ,
Chunli Wang  and
Shiwei Yang Open the ORCID record for Shiwei Yang [Opens in a new window]
Ningning Sun
Affiliation:
Department of Cardiology, Children’s Hospital of Nanjing Medical University, Nanjing, China
Chunli Wang
Affiliation:
Nanjing Key Laboratory of Pediatrics, Children’s Hospital of Nanjing Medical University, Nanjing, China
Shiwei Yang*
Affiliation:
Department of Cardiology, Children’s Hospital of Nanjing Medical University, Nanjing, China
*
Corresponding author: Shiwei Yang; Email: [email protected]
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Abstract

Desminopathy is a rare heritable cardiac and skeletal muscle disease caused by variants in the DES gene, which encodes the primary muscle-specific intermediate filament protein, known as desmin. Childhood-onset is commonly associated with severe early-onset myopathy and early death. Here, we reported an 11-year-old Chinese girl presenting with complete atrioventricular block and cardiomyopathy, without skeletal muscle involvement. Genetic analysis identified a de novo variant (c.152C > T/p.Ser51Phe) in the DES gene.

Keywords

DesminopathyDES genechildhoodcardiomyopathyatrioventricular block
Type
Brief Report
Information
Cardiology in the Young , First View , pp. 1 - 3
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Copyright
© The Author(s), 2025. Published by Cambridge University Press

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