Universidad del Rosario, Bogotá, Colombia.
Department of Pediatrics, Neonatology, Fundacion Santa Fe de Bogota Hospital Universitario, Bogota, Colombia
BMJ Case Rep. 2020 Jun 1;13(6):e233766. doi: 10.1136/bcr-2019-233766.
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.
埃布斯坦畸形是一种先天性心脏缺陷,在生命早期的发病率低,但死亡率高。在医学文献中,没有报道埃布斯坦畸形与猫叫综合征之间存在关联。在这里,我们报告了一例足月新生儿,体重低于其年龄的预期值,产前诊断为埃布斯坦畸形,产后诊断为猫叫综合征,并通过 array CGH 检测到 20q 重复。该患者需要接受正性肌力支持、高频通气和一氧化氮治疗,反应良好。不需要手术干预。