Aortic stenosis in hypoplastic right heart syndrome, associated with interstitial deletion of chromosome 2

[摘要] This report describes a rare case of moderate to severe valvular aortic stenosis in the setting of severe tricuspid stenosis, pulmonary atresia with intact interventricular septum and right ventricular dependent coronary circulation. We discuss the clinical hemodynamic, echocardiographic and angiocardiographic findings on this rare case and comment on accompanied malformations, with its possible association observed to the interstitial deletion of band q22 or q24 of the long arm of chromosome 2. (C) 1997 Elsevier Science Ireland Ltd.

[发布日期] 1997-12-19

[关键词] aortic stenosis;hypoplastic right heart syndrome;pulmonary atresia;agenesis of corpus callosum;interstitial 2q deletion