Article (Scientific journals)
Cas clinique. Cardiopathie congénitale complexe : à propos d’un cas de syndrome de Noonan.
MAGOTTEAUX, Samia; Farhat, Nesrine; Jacquinet, Adeline et al.
2023In Revue Médicale de Liège, 78 (3), p. 130-136
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Keywords :
LZTR1 protein, human; Transcription Factors; Infant, Newborn; Infant; Female; Humans; Aged; Child, Preschool; Noonan Syndrome/complications/diagnosis/genetics; Echocardiography; Pulmonary Valve Stenosis/diagnosis/surgery/complications; Child; Complex congenital cardiac disease; Genetic testing; Noonan syndrome; Psychomotor development; Socio- economic status
Abstract :
[en] 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.
Disciplines :
Pediatrics
Cardiovascular & respiratory systems
Author, co-author :
MAGOTTEAUX, Samia ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie
Farhat, Nesrine  ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie
Jacquinet, Adeline ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Seghaye, Marie-Christine ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie
Language :
French
Title :
Cas clinique. Cardiopathie congénitale complexe : à propos d’un cas de syndrome de Noonan.
Alternative titles :
[en] Complex congenital heart disease : about a case of Noonan syndrome.
Publication date :
March 2023
Journal title :
Revue Médicale de Liège
ISSN :
0370-629X
eISSN :
2566-1566
Publisher :
Université de Liège. Revue Médicale de Liège, Liège, Be
Volume :
78
Issue :
3
Pages :
130-136
Peer reviewed :
Editorial Reviewed verified by ORBi
Available on ORBi :
since 26 June 2023

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