A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period
Joint Authors
Takahashi, Kiichi
Adachi, Hiroyuki
Toyono, Manatomo
Ito, Masato
Kato, Akie
Noguchi, Atsuko
Takahashi, Tsutomu
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-08-29
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Takahashi, Kiichi& Adachi, Hiroyuki& Toyono, Manatomo& Ito, Masato& Kato, Akie& Noguchi, Atsuko…[et al.]. 2020. A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period. Case Reports in Genetics،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1147238
Modern Language Association (MLA)
Takahashi, Kiichi…[et al.]. A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period. Case Reports in Genetics No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1147238
American Medical Association (AMA)
Takahashi, Kiichi& Adachi, Hiroyuki& Toyono, Manatomo& Ito, Masato& Kato, Akie& Noguchi, Atsuko…[et al.]. A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period. Case Reports in Genetics. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1147238
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147238