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Rare disease
Ebstein anomaly associated with cri du chat (cat’s cry) syndrome and 20q duplication
  1. Alberto Olivella1,
  2. Hernan Manotas2,
  3. César Payán-Gómez3 and
  4. Juan Gabriel Piñeros2
  1. 1 Universidad del Rosario, Bogotá, Colombia
  2. 2 Department of Pediatrics, Neonatology, Fundacion Santa Fe de Bogota Hospital Universitario, Bogota, Colombia
  3. 3 Department of Biology, Faculty of Natural Sciences and Mathematics, Universidad del Rosario, Bogota, Colombia
  1. Correspondence to Dr Hernan Manotas; h_manotas{at}hotmail.com

Abstract

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.

  • genetic screening / counselling
  • genetics
  • neonatal intensive care
  • congenital disorders

https://doi.org/10.1136/bcr-2019-233766

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    Footnotes

    • Contributors This article was written by HM, who was also responsible for the conduct, reporting, acquisition of data and analysis. AO discussed the planning and was also responsible for conduct and reporting. CP-G was responsible for analysis and interpretation of data. JGP was responsible for planning and conduct.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.