Abadir Sylvia, Edouard Thomas, Julia Sophie
Department of Pediatric Cardiology, Hôpital des Enfants, Toulouse, France.
Cardiol Young. 2007 Feb;17(1):95-7. doi: 10.1017/S1047951106001144. Epub 2006 Dec 22.
Noonan's syndrome is an autosomal dominant genetic disease, in which mutation of the PTPN11 gene is found in from one-third to half of all cases. Pulmonary valvar stenosis and myocardiopathy are frequently associated cardiac malformations, whereas aortic valvar stenosis is rarely described. We report, as far as we know, the first case of familial Noonan syndrome with severe aortic valvar stenosis, demonstrating mutation of the PTPN11 gene in the father of the patient.
努南综合征是一种常染色体显性遗传病，在所有病例中，三分之一至一半的病例可发现PTPN11基因突变。肺动脉瓣狭窄和心肌病是常见的相关心脏畸形，而主动脉瓣狭窄很少被描述。据我们所知，我们报告了首例伴有严重主动脉瓣狭窄的家族性努南综合征病例，该病例显示患者父亲存在PTPN11基因突变。
