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

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. [ABSTRACT FROM AUTHOR]