[Complex congenital heart disease : about a case of Noonan syndrome].

Q3 Medicine
Revue medicale de Liege Pub Date : 2023-03-01
Samia Magotteaux, Nesrine Farhat, Adeline Jacquinet, Marie-Christine Seghaye
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引用次数: 0

Abstract

We present the case of a young girl in whom pre-natal echocardiography showed double outlet right ventricle associated with severe infundibular- and pulmonary valve stenosis. The genetic testing has shown a mutation on the LZTR1 gene, which confirms the diagnosis of a Noonan Syndrome, also present in the mother and an elder sister. The infant was born premature at 34 weeks and 5 days of gestational age. During the neonatal period, feeding difficulties are noted linked to oral aversion and exacerbated by difficulties in the mother-child bond. At 1 month of age, the child presented hypoxic spells caused by the infundibular stenosis which required emergency aorto-pulmonary anastomosis placement ensuring sufficient pulmonary blood flow. This anastomosis needed to be replaced by a larger one at 9th month of age. The child is now 4 years old and has undergone a complete surgical correction. The multidisciplinary management englobes not only follow up in cardiology, genetics, neurology, ophthalmology and hematology but also feeding support and psychomotor development support. The socio-economic precariousness of the family leads to a constant assistance to allow the best possible development of the child.

复杂先天性心脏病:努南综合征1例
我们提出的情况下,一个年轻的女孩在产前超声心动图显示双出口右心室与严重的漏斗和肺动脉瓣狭窄。基因检测显示,LZTR1基因发生了突变,证实了母亲和姐姐也患有努南综合征。这名婴儿在34周零5天的胎龄时早产。在新生儿时期,喂养困难与口腔厌恶有关,并因母子关系困难而加剧。在1个月大的时候,孩子出现了由小脑狭窄引起的缺氧期,需要紧急主动脉-肺吻合术,以确保有足够的肺血流。这个吻合口需要在9个月大时更换一个更大的吻合口。这个孩子现在4岁了,已经做了完全的手术矫正。多学科管理不仅包括心脏科、遗传学、神经病学、眼科和血液科的随访,还包括喂养支持和精神运动发展支持。家庭在社会经济方面的不稳定性导致需要不断的援助,以使儿童得到最好的发展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Revue medicale de Liege
Revue medicale de Liege Medicine-Medicine (all)
CiteScore
0.80
自引率
0.00%
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0
期刊介绍: The Medical Review of Liege is a tool for continuous medical training being addressed to students, general practitioners, and specialists
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