特纳综合征中的心血管疾病及其与核型的相关性。

Cardiovascular disorders in Turner's syndrome and its correlation to karyotype.

作者信息

Hou J W, Hwu W L, Tsai W Y, Lee J S, Wang T R, Lue H C

机构信息

Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.

出版信息

J Formos Med Assoc. 1993 Feb;92(2):188-9.

PMID:8101751

Abstract

Forty-nine out of 66 patients with Turner's syndrome and different karyotypes underwent full cardiological evaluations (physical examination, electrocardiography, chest X-ray and echocardiography). Congenital cardiovascular anomalies were found in 11 patients (22.4%). Among the cardiac anomalies in patients with Turner's syndrome, aortic malformations (aortic coarctation [27%], aortic stenosis [18%] and bicuspid aortic valve [18%]) were the most frequent. We observed that the most severe malformations were found in those with karyotype 45,X or 45,X/46,XX. No anomalies were detected in patients with the X isochromosome or those mosaic with the Y component.

摘要

66例不同核型的特纳综合征患者中有49例接受了全面的心脏评估（体格检查、心电图、胸部X线和超声心动图）。11例患者（22.4%）发现先天性心血管异常。在特纳综合征患者的心脏异常中，主动脉畸形（主动脉缩窄[27%]、主动脉狭窄[18%]和二叶主动脉瓣[18%]）最为常见。我们观察到，核型为45,X或45,X/46,XX的患者中发现的畸形最为严重。X等臂染色体患者或含有Y成分的嵌合体患者未检测到异常。