title: Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.
abstract: Noonan syndrome is a well-known genetic condition associating congenital heart defects, short stature, and distinctive facial features. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most frequent cardiac abnormalities, the latter being associated with a higher mortality. Here we report for the first time, a case of congenital left main coronary artery atresia in a Noonan syndrome associated with RIT1 variant, leading to unrescued sudden death. This case-report supports the already-suspected severity of the RIT1-related Noonan syndrome compared to average Noonan syndrome, and should encourage clinicians to be very cautious with these patients.
authors.affiliation: Service de Génétique, CHU-Hôpital Nord, Saint-Etienne, France.
authors.forename: Francis
authors.initials: F
authors.lastname: Ramond
authors.affiliation: Service de médecine légale, CHU-Hôpital Nord, Saint-Etienne, France.
authors.forename: Sébastien
authors.initials: S
authors.lastname: Duband
authors.affiliation: Service de Radiologie, CHU-Hôpital Nord, Saint-Etienne, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Croisille
authors.affiliation: Département de Génétique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Cavé
authors.affiliation: Service de Néonatalogie et de Réanimation Pédiatrique, CHU-Hôpital Nord, Saint-Etienne, France.
authors.forename: Georges
authors.initials: G
authors.lastname: Teyssier
authors.affiliation: Service de Génétique, CHU-Hôpital Nord, Saint-Etienne, France.
authors.forename: Véronique
authors.initials: V
authors.lastname: Adouard
authors.affiliation: Service de Génétique, CHU-Hôpital Nord, Saint-Etienne, France. Electronic address: renaud.touraine@chu-st-etienne.fr.
authors.forename: Renaud
authors.initials: R
authors.lastname: Touraine
mesh_terms: D002648:Child; D003330:Coronary Vessel Anomalies / Q000235:genetics* / Q000473:pathology; D016757:Death, Sudden, Cardiac; D006801:Humans; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D018631:ras Proteins / Q000235:genetics*
chemical_list: C486776:RIT1 protein, human; D018631:ras Proteins
keywords: Colon stenosis; Left main coronary artery atresia; Noonan syndrome; RIT1; Sudden death