Uçar T, Atalay S, Tekin M, Tutar E
Department of Pediatric Cardiology, Ankara University School of Medicine, Ankara, Turkey.
Pediatr Cardiol. 2005 Nov-Dec;26(6):848-50. doi: 10.1007/s00246-005-0935-2.
Noonan syndrome is the second most frequent congenital malformation syndrome, after Down syndrome, associated with cardiovascular abnormalities. The most prevalent cardiovascular abnormalities in Noonan syndrome are pulmonary stenosis and hypertrophic cardiomyopathy. We report the case of a 12-year-old girl with Noonan syndrome who had multiple cardiovascular abnormalities, including extensive bilateral coronary artery dilatation, valvular and supravalvular pulmonary stenosis, atrial septal defect, and mitral valve prolapse. Both coronary artery dilatation and supravalvular pulmonary stenosis, although rarely reported, are abnormalities of the cardiovascular system that may occur in Noonan syndrome.
努南综合征是仅次于唐氏综合征的第二常见的先天性畸形综合征,与心血管异常相关。努南综合征最常见的心血管异常是肺动脉狭窄和肥厚型心肌病。我们报告了一例12岁患有努南综合征的女孩,她有多种心血管异常,包括广泛的双侧冠状动脉扩张、瓣膜及瓣膜上肺动脉狭窄、房间隔缺损和二尖瓣脱垂。冠状动脉扩张和瓣膜上肺动脉狭窄虽然报道较少,但都是可能发生在努南综合征中的心血管系统异常。