Isolated cytokine-enriched pericardial effusion: A likely key feature for Aymé-Gripp syndrome

Am J Med Genet A. 2022 Feb;188(2):624-627. doi: 10.1002/ajmg.a.62540. Epub 2021 Oct 12.


Aymé-Gripp syndrome is a multisystemic disorder caused by a heterozygous variation in the MAF gene (OMIM*177075). Key features are congenital cataracts, sensorineural hearing loss, and a characteristic facial appearance. In a proportion of individuals, pericardial effusion or pericarditis has been reported as part of the phenotypic spectrum. In the present case, a large persistent cytokine-enriched pericardial effusion was the main pre- and postnatal symptom that led to the clinical and later molecular diagnosis of Aymé-Gripp syndrome. In the postnatal course, the typical Aymé-Gripp syndrome-associated features bilateral cataracts and hearing loss were diagnosed. We propose that activating dominant variants in the cytokine-modulating transcription factor c-MAF causes cytokine-enriched pericardial effusions possibly representing a key feature of Aymé-Gripp syndrome.

Keywords: Aymé-Gripp syndrome; congenital cataract; hearing loss; pericardial effusion.

Publication types

  • Case Reports

MeSH terms

  • Cataract* / genetics
  • Cytokines / genetics
  • Facies
  • Hearing Loss, Sensorineural* / diagnosis
  • Hearing Loss, Sensorineural* / genetics
  • Humans
  • Pericardial Effusion* / diagnosis
  • Pericardial Effusion* / genetics


  • Cytokines