Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication

Ebstein anomaly is a congenital heart defect with a low prevalence and high mortality in the early stages of life. In medical literature, there is no reported association between Ebstein anomaly and cri du chat syndrome. Here, we report the case of a full-term newborn with a low weight for his age a...

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Autores Principales: Olivella, Alberto, Manotas, Hernan, Payán-Gómez, César, Piñeros, Juan Gabriel
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: BMJ Publishing 2020
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/27554
http://dx.doi.org/10.1136/bcr-2019-233766
id ir-10336-27554
recordtype dspace
spelling ir-10336-275542020-08-19T14:42:42Z Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication Anomalía de Ebstein asociada con síndrome de cri du chat (llanto de gato) y duplicación 20q Olivella, Alberto Manotas, Hernan Payán-Gómez, César Piñeros, Juan Gabriel Congenital disorders Genetic screening / counselling Genetics Neonatal intensive care Ebstein anomaly is a congenital heart defect with a low prevalence and high mortality in the early stages of life. In medical literature, there is no reported association between Ebstein anomaly and cri du chat syndrome. Here, we report the case of a full-term newborn with a low weight for his age and who had a prenatal diagnosis of Ebstein anomaly and a postnatal diagnosis of cri du chat syndrome and 20q duplication detected on array CGH. The patient required medical treatment with inotropic support, high-frequency ventilation and nitric oxide, with an adequate response. Surgical intervention was not needed. 2020-06-01 2020-08-19T14:42:42Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion EISSN: 1757-790X https://repository.urosario.edu.co/handle/10336/27554 http://dx.doi.org/10.1136/bcr-2019-233766 eng info:eu-repo/semantics/restrictedAccess application/pdf BMJ Publishing BMJ Case Reports
institution EdocUR - Universidad del Rosario
collection DSpace
language Inglés (English)
topic Congenital disorders
Genetic screening / counselling
Genetics
Neonatal intensive care
spellingShingle Congenital disorders
Genetic screening / counselling
Genetics
Neonatal intensive care
Olivella, Alberto
Manotas, Hernan
Payán-Gómez, César
Piñeros, Juan Gabriel
Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
description Ebstein anomaly is a congenital heart defect with a low prevalence and high mortality in the early stages of life. In medical literature, there is no reported association between Ebstein anomaly and cri du chat syndrome. Here, we report the case of a full-term newborn with a low weight for his age and who had a prenatal diagnosis of Ebstein anomaly and a postnatal diagnosis of cri du chat syndrome and 20q duplication detected on array CGH. The patient required medical treatment with inotropic support, high-frequency ventilation and nitric oxide, with an adequate response. Surgical intervention was not needed.
format Artículo (Article)
author Olivella, Alberto
Manotas, Hernan
Payán-Gómez, César
Piñeros, Juan Gabriel
author_facet Olivella, Alberto
Manotas, Hernan
Payán-Gómez, César
Piñeros, Juan Gabriel
author_sort Olivella, Alberto
title Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
title_short Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
title_full Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
title_fullStr Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
title_full_unstemmed Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
title_sort ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
publisher BMJ Publishing
publishDate 2020
url https://repository.urosario.edu.co/handle/10336/27554
http://dx.doi.org/10.1136/bcr-2019-233766
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score 11,828437