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1 results

  • Severe conduction block and cardiomyopathy associated with desminopathy

  • Ningning Sun, Chunli Wang, Shiwei Yang
  • Journal:
    Cardiology in the Young / Volume 35 / Issue 4 / April 2025
    Published online by Cambridge University Press:
    14 March 2025, pp. 850-852

  • 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.