title: [Neonatal atrial tachycardia: suggestive clinical sign of Costello syndrome].
abstract: Costello syndrome is a rare association of symptoms caused by de novo germline mutations of the HRAS oncogene interfering in the RAS/mitogen-activated protein kinase (MAPK) signal transduction pathway. Mutations in this pathway are also responsible for Noonan syndrome and the related cardiofaciocutaneous syndrome (CFC) as well as LEOPARD syndrome. The 4 syndromes share phenotypic resemblances concerning patients' morphology but also regarding associated cardiac disease, namely hypertrophic cardiomyopathy, pulmonary stenosis, and atrial septal defect. The electrocardiogram often shows an upper deviation of the QRS axis. Arrhythmias are rare but, if present, are particularly typical of CS. We describe herein two newborn infants with Costello syndrome revealed by atrial tachycardia associated with characteristic morphological and cardiac features of syndromes related to mutations in the RAS/MAPK pathway.
authors: Centre de référence « malformations cardiaques congénitales complexes-M3C », hôpital Necker-Enfants-Malades, université Paris-Descartes, 149, rue de Sèvres, 75015 Paris, France.
authors: D
authors: D
authors: Laux
authors: F
authors: F
authors: Bajolle
authors: A
authors: A
authors: Maltret
authors: D
authors: D
authors: Bonnet
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D015415:Biomarkers / Q000097:blood; D056685:Costello Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D020928:Mitogen-Activated Protein Kinases / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D015398:Signal Transduction; D013614:Tachycardia, Paroxysmal / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D018631:ras Proteins / Q000235:genetics
chemical_list: D015415:Biomarkers; D020928:Mitogen-Activated Protein Kinases; D018631:ras Proteins