Laux D, Bajolle F, Maltret A, Bonnet D
Centre de référence « malformations cardiaques congénitales complexes-M3C », hôpital Necker-Enfants-Malades, université Paris-Descartes, 149, rue de Sèvres, 75015 Paris, France.
Arch Pediatr. 2011 Oct;18(10):1087-9. doi: 10.1016/j.arcped.2011.07.010. Epub 2011 Aug 31.
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.
科斯特洛综合征是一种由HRAS癌基因的新生种系突变引起的罕见症状组合，该突变干扰了RAS/丝裂原活化蛋白激酶（MAPK）信号转导通路。该通路中的突变也与努南综合征、相关的心面皮肤综合征（CFC）以及豹皮综合征有关。这四种综合征在患者形态方面以及相关心脏疾病方面存在表型相似性，即肥厚型心肌病、肺动脉狭窄和房间隔缺损。心电图常显示QRS电轴上偏。心律失常很少见，但如果出现，则是科斯特洛综合征的典型表现。我们在此描述了两名患有科斯特洛综合征的新生儿，他们因房性心动过速而被发现，同时伴有与RAS/MAPK通路突变相关综合征的特征性形态和心脏特征。
