Jefferies John L, Belmont John W, Pignatelli Ricardo, Towbin Jeffrey A, Craigen William J
Section of Pediatric Cardiology, Texas Children's Hospital, 6621 Fannin, MC 19345-C, Houston, TX 77030, USA.
Pediatr Cardiol. 2010 Jan;31(1):114-6. doi: 10.1007/s00246-009-9537-8. Epub 2009 Oct 1.
Noonan syndrome is an autosomal dominant disease that manifests a wide variety of clinical characteristics. The syndrome is also associated with some cardiac defects. Half of all Noonan syndrome cases are caused by mutations in the PTPN11 gene, but only limited data are available regarding aortic involvement in these cases. No reports exist regarding PTPN11 mutations in association with both aortic dilation and hypertrophic cardiomyopathy. We describe an 8-year-old girl who had Noonan syndrome involving a PTPN11 mutation, hypertrophic cardiomyopathy, main pulmonary artery dilation, and aortic root dilation. To our knowledge, this is the first case in which all three of these cardiovascular features have been observed in a single patient with Noonan syndrome.
努南综合征是一种常染色体显性疾病，表现出多种多样的临床特征。该综合征还与一些心脏缺陷有关。所有努南综合征病例中有一半是由PTPN11基因突变引起的，但关于这些病例中主动脉受累的可用数据有限。目前尚无关于PTPN11突变与主动脉扩张和肥厚型心肌病相关的报道。我们描述了一名8岁女孩，她患有涉及PTPN11突变的努南综合征、肥厚型心肌病、主肺动脉扩张和主动脉根部扩张。据我们所知，这是首例在一名患有努南综合征的患者中观察到所有这三种心血管特征的病例。
