A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period
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 hydrone...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2020/1731720 |
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| author | Kiichi Takahashi Hiroyuki Adachi Manatomo Toyono Masato Ito Akie Kato Atsuko Noguchi Tsutomu Takahashi |
| author_facet | Kiichi Takahashi Hiroyuki Adachi Manatomo Toyono Masato Ito Akie Kato Atsuko Noguchi Tsutomu Takahashi |
| author_sort | Kiichi Takahashi |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a9663d35225947e68b4091b6a9bf3288 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-a9663d35225947e68b4091b6a9bf32882025-02-03T06:43:44ZengWileyCase Reports in Genetics2090-65442090-65522020-01-01202010.1155/2020/17317201731720A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal PeriodKiichi Takahashi0Hiroyuki Adachi1Manatomo Toyono2Masato Ito3Akie Kato4Atsuko Noguchi5Tsutomu Takahashi6Department of Pediatrics, Akita University Graduate School of Medicine, Akita, JapanDepartment of Pediatrics, Akita University Graduate School of Medicine, Akita, JapanDepartment of Pediatrics, Akita University Graduate School of Medicine, Akita, JapanDepartment of Pediatrics, Akita University Graduate School of Medicine, Akita, JapanDepartment of Pediatrics, Akita University Graduate School of Medicine, Akita, JapanDepartment of Pediatrics, Akita University Graduate School of Medicine, Akita, JapanDepartment of Pediatrics, Akita University Graduate School of Medicine, Akita, JapanGenitopatellar 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.http://dx.doi.org/10.1155/2020/1731720 |
| spellingShingle | Kiichi Takahashi Hiroyuki Adachi Manatomo Toyono Masato Ito Akie Kato Atsuko Noguchi Tsutomu Takahashi A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period Case Reports in Genetics |
| title | A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period |
| title_full | A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period |
| title_fullStr | A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period |
| title_full_unstemmed | A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period |
| title_short | A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period |
| title_sort | japanese patient with genitopatellar syndrome transiently presenting with cardiac intramural cavity during the neonatal period |
| url | http://dx.doi.org/10.1155/2020/1731720 |
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