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Sterile Pericarditis in Aachener Minipigs As a Model for Atrial Myopathy and Atrial Fibrillation
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Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome

Anna-Lina König1, Hemmen Sabir1, Brigitte Strizek2

  • 1Department of Neonatology and Pediatric Intensive Care Medicine, University Clinics of Bonn, Bonn, Germany.

American Journal of Medical Genetics. Part A
|October 13, 2021
PubMed

Insights

Aymé-Gripp syndrome, a rare genetic disorder, can manifest with significant pericardial effusion. Activating MAF gene variants may cause this cytokine-rich fluid buildup, a potential key feature of the syndrome.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiology

Background:

  • Aymé-Gripp syndrome is a multisystemic disorder linked to MAF gene variations.
  • Characteristic features include cataracts, hearing loss, and distinct facial appearance.
  • Pericardial effusion/pericarditis is an occasionally reported feature.

Observation:

  • A case presented with a large, persistent cytokine-enriched pericardial effusion as the primary symptom.
  • This effusion was the main indicator leading to clinical and molecular diagnosis.
  • Postnatal diagnosis confirmed typical Aymé-Gripp features: bilateral cataracts and hearing loss.

Findings:

  • Activating dominant variants in the c-MAF transcription factor are implicated.
  • These variants may lead to cytokine-enriched pericardial effusions.
  • This effusion could be a key diagnostic feature of Aymé-Gripp syndrome.

Implications:

  • Highlights a potential novel phenotype of Aymé-Gripp syndrome.
  • Suggests c-MAF variants' role in cytokine dysregulation and fluid accumulation.
  • May guide earlier diagnosis and management of affected individuals.
Keywords:
Aymé-Gripp syndromecongenital cataracthearing losspericardial effusion

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