[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: D Laux, F Bajolle, A Maltret, D Bonnet
• Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie (Arch Pediatr) Vol. 18 Issue 10 Pg. 1087-9 (Oct 2011) ISSN: 1769-664X [Electronic] France
• Vernacular Title: La tachycardie atriale néonatale : association non fortuite avec le syndrome de Costello. À propos de 2 cas.
• PMID: 21885263 (Publication Type: Case Reports, English Abstract, Journal Article)
• Copyright: Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Chemical References

• Biomarkers
• Mitogen-Activated Protein Kinases
• ras Proteins

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Biomarkers (blood)
• Costello Syndrome (complications, diagnosis, genetics)
• Diagnosis, Differential
• Female
• Humans
• Infant, Newborn
• Mitogen-Activated Protein Kinases (genetics)
• Mutation
• Phenotype
• Signal Transduction
• Tachycardia, Paroxysmal (diagnosis, etiology, genetics)
• ras Proteins (genetics)