A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period.

Autor: Takahashi K; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Adachi H; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Toyono M; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Ito M; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Kato A; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Noguchi A; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan., Takahashi T; Department of Pediatrics, Akita University Graduate School of Medicine, Akita, Japan.
Jazyk: angličtina
Zdroj: Case reports in genetics [Case Rep Genet] 2020 Aug 29; Vol. 2020, pp. 1731720. Date of Electronic Publication: 2020 Aug 29 (Print Publication: 2020).
DOI: 10.1155/2020/1731720
Abstrakt: Genitopatellar syndrome (GPS) is a rare autosomal dominant disorder caused by de novo pathogenic variants in the KAT6B gene. It is characterized by genital abnormalities, patellar hypoplasia/agenesis, flexion contractures of the hips and knees, corpus callosum agenesis with microcephaly, and hydronephrosis and/or multiple renal cysts. More than half of patients with GPS have congenital heart defects, mostly atrial and/or ventricular septal defects, patent foramen ovale, and patent ductus arteriosus. We report a case of a Japanese neonate with a de novo heterozygous c.3769_3772delTCTA pathogenic variant in the KAT6B gene who presented with a cardiac intramural cavity of the ventricular septum at birth. The cavity unexpectedly disappeared at 1 month of age, but trabecular septal thinning and flash remained. The features of the cavity were not consistent with those of congenital ventricular diverticulum or aneurysm, and its identity and prognosis are still unclear. Because patients with GPS may exhibit various forms of cardiac malformation, careful cardiac examination and follow-up are required from birth in cases of suspected GPS.
Competing Interests: The authors declare that they have no conflicts of interest.
(Copyright © 2020 Kiichi Takahashi et al.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje