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

BMJ Case Rep. 2020 Jun 1;13(6):e233766. doi: 10.1136/bcr-2019-233766.

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.

Keywords: congenital disorders; genetic screening / counselling; genetics; neonatal intensive care.

Publication types

  • Case Reports

MeSH terms

  • Airway Management / methods
  • Cardiotonic Agents / therapeutic use
  • Chromosome Deletion*
  • Chromosome Duplication*
  • Chromosomes, Human, Pair 20* / genetics
  • Cri-du-Chat Syndrome* / complications
  • Cri-du-Chat Syndrome* / diagnosis
  • Cri-du-Chat Syndrome* / genetics
  • Diagnosis, Differential
  • Ebstein Anomaly* / complications
  • Ebstein Anomaly* / genetics
  • Ebstein Anomaly* / physiopathology
  • Ebstein Anomaly* / therapy
  • Genetic Testing / methods
  • Humans
  • Infant, Newborn
  • Male
  • Neonatal Screening / methods
  • Nitric Oxide / therapeutic use
  • Patient Care Management
  • Prenatal Diagnosis / methods
  • Rare Diseases

Substances

  • Cardiotonic Agents
  • Nitric Oxide