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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5-Related Distal Myopathy

Olga Blagova1, Yulia Lutokhina1, Marina Vukolova2

  • 1V.N. Vinogradov Faculty Therapeutic Clinic, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia.

Genes
|July 29, 2023
PubMed

Insights

A pathogenic variant in the ANO5 gene was identified in a patient with late-onset distal myopathy. Post-COVID-19 myopericarditis exacerbated his existing heart failure.

Area of Science:

  • Cardiology
  • Genetics
  • Neurology

Background:

  • A 60-year-old male presented with hypertrophic cardiomyopathy, conduction disorders, and heart failure.
  • He had a history of post-COVID-19 myopericarditis, which may have served as a trigger for decompensation on a genetically predisposed background.

Observation:

  • Elevated creatine phosphokinase (CPK) activity, troponin T, and anticardiac antibodies were noted.
  • Whole exome sequencing identified the pathogenic variant NM_213599:c.2272C>T in the ANO5 gene.
  • Skeletal muscle biopsy revealed perimysial sclerosis, microvessel sclerosis, dystrophic changes, and lack of cross-striations, excluding systemic amyloidosis.

Findings:

  • The clinical presentation, elevated CPK, and muscle biopsy findings suggested a late-onset Miyoshi-like distal myopathy (MMD3).
  • The identified ANO5 gene variant is associated with distal myopathies.

Implications:

  • This case highlights the potential for genetic predisposition to myopathy to interact with viral infections like COVID-19.
  • Understanding these interactions is crucial for diagnosing and managing complex cardiac and muscular conditions.

Keywords:
ANO5COVID-19Miyoshi-like distal myopathyNM_213599:c.2272C>Tanoctamin 5anticardiac antibodiesarrhythmiaheart failurehypertrophic cardiomyopathymyocarditismyopericarditis

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