Multiple heart malformations in a patient with Holt—Oram syndrome
Holt—Oram syndrome is a rare genetic disease characterized by an abnormality of the upper limb, congenital heart disease and / or conduction abnormalities. The disease is caused by the mutations in the Tbox5 gene (allocation 12q24.21), inherited in an autosomal dominant manner. Heart septal defects...
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2020-11-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/1241 |
| _version_ | 1797875172520230912 |
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| author | I. A. Soynov D. A. Dultceva A. V. Leykekhman A. N. Arkhipov |
| author_facet | I. A. Soynov D. A. Dultceva A. V. Leykekhman A. N. Arkhipov |
| author_sort | I. A. Soynov |
| collection | DOAJ |
| description | Holt—Oram syndrome is a rare genetic disease characterized by an abnormality of the upper limb, congenital heart disease and / or conduction abnormalities. The disease is caused by the mutations in the Tbox5 gene (allocation 12q24.21), inherited in an autosomal dominant manner. Heart septal defects and isolated thenar hypoplasia are typical congenital malformations. The article describes a clinical case of a 7-month-old girl with a family history of Holt—Oram syndrome: the absence of the first metacarpal bone of the left hand and multiple heart defects (atrial septal defect, multiple defects of the ventricular septum of the Swiss cheese type, aortic valve stenosis). The authors present a detailed clinical diagnosis of Holt—Oram syndrome, as well as genetic analysis and genetic testing of the child and immediate relatives. |
| first_indexed | 2024-04-10T01:42:19Z |
| format | Article |
| id | doaj.art-6600b9f1eaaf443597da193a47fec66e |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:42:19Z |
| publishDate | 2020-11-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-6600b9f1eaaf443597da193a47fec66e2023-03-13T09:12:49ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282020-11-01655838610.21508/1027-4065-2020-65-5-83-86941Multiple heart malformations in a patient with Holt—Oram syndromeI. A. Soynov0D. A. Dultceva1A. V. Leykekhman2A. N. Arkhipov3ФГБУ «Национальный медицинский исследовательский центр им. Е.Н. Мешалкина» Минздрава РоссииГБОУ ВПО «Новосибирский государственный медицинский университет» Минздрава РоссииФГБУ «Национальный медицинский исследовательский центр им. Е.Н. Мешалкина» Минздрава РоссииФГБУ «Национальный медицинский исследовательский центр им. Е.Н. Мешалкина» Минздрава РоссииHolt—Oram syndrome is a rare genetic disease characterized by an abnormality of the upper limb, congenital heart disease and / or conduction abnormalities. The disease is caused by the mutations in the Tbox5 gene (allocation 12q24.21), inherited in an autosomal dominant manner. Heart septal defects and isolated thenar hypoplasia are typical congenital malformations. The article describes a clinical case of a 7-month-old girl with a family history of Holt—Oram syndrome: the absence of the first metacarpal bone of the left hand and multiple heart defects (atrial septal defect, multiple defects of the ventricular septum of the Swiss cheese type, aortic valve stenosis). The authors present a detailed clinical diagnosis of Holt—Oram syndrome, as well as genetic analysis and genetic testing of the child and immediate relatives.https://www.ped-perinatology.ru/jour/article/view/1241детисиндром холта—орамадефект межпредсердной перегородкимножественные дефекты межжелудочковой перегородкистеноз аортального клапанагипоплазия большого пальца левой кистиген tbox5оперативное лечение |
| spellingShingle | I. A. Soynov D. A. Dultceva A. V. Leykekhman A. N. Arkhipov Multiple heart malformations in a patient with Holt—Oram syndrome Rossijskij Vestnik Perinatologii i Pediatrii дети синдром холта—орама дефект межпредсердной перегородки множественные дефекты межжелудочковой перегородки стеноз аортального клапана гипоплазия большого пальца левой кисти ген tbox5 оперативное лечение |
| title | Multiple heart malformations in a patient with Holt—Oram syndrome |
| title_full | Multiple heart malformations in a patient with Holt—Oram syndrome |
| title_fullStr | Multiple heart malformations in a patient with Holt—Oram syndrome |
| title_full_unstemmed | Multiple heart malformations in a patient with Holt—Oram syndrome |
| title_short | Multiple heart malformations in a patient with Holt—Oram syndrome |
| title_sort | multiple heart malformations in a patient with holt oram syndrome |
| topic | дети синдром холта—орама дефект межпредсердной перегородки множественные дефекты межжелудочковой перегородки стеноз аортального клапана гипоплазия большого пальца левой кисти ген tbox5 оперативное лечение |
| url | https://www.ped-perinatology.ru/jour/article/view/1241 |
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