{"title":"[Complex congenital heart disease : about a case of Noonan syndrome].","authors":"Samia Magotteaux, Nesrine Farhat, Adeline Jacquinet, Marie-Christine Seghaye","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":21414,"journal":{"name":"Revue medicale de Liege","volume":"78 3","pages":"130-136"},"PeriodicalIF":0.0000,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revue medicale de Liege","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
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.