Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature.

Autor: Esposito A; Department of Cardiac Surgery, Cardiology, Heart and Lung Transplantation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Niceta M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Magliozzi M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Parlapiano G; Cardiogenetic Center, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Baban A; Cardiogenetic Center, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Perrone MA; Clinical Pathways and Epidemiology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Division of Cardiology and CardioLab, Department of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, Rome, Italy.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63586. Date of Electronic Publication: 2024 May 06.
DOI: 10.1002/ajmg.a.63586
Abstrakt: Aymé-Gripp syndrome (AYGRPS) is a multisystemic disorder caused by a subset of pathogenic variants in the MAF gene. Major clinical features include bilateral early cataracts, sensorineural hearing loss (SNHL), and a characteristic facial appearance along with variable neurodevelopmental delay. Pericarditis resulting in pericardial effusion of varying degree has been observed in a subset of affected individuals and could represent a severe feature in neonatal or infantile age. Here, we describe a syndromic infant with massive pericardial effusion and craniofacial features that oriented toward the suspicion of AYGRPS, which was subsequently confirmed by the molecular analysis of MAF. Pericardial effusion was first observed prenatally and documented to be recurrent, progressive, and severe in the first months of life, thus requiring pericardiocentesis and surgical procedures. In this report, we provide further delineation of the minor clinical characteristics, particularly focusing on cardiac features of AYGRPS. A dedicated cardiac surveillance of these findings may help reduce the morbidity and mortality of this rare condition.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
Externí odkaz: