左心发育不全综合征与45,X核型
Hypoplastic left heart syndrome and 45X karyotype.
作者信息
van Egmond H, Orye E, Praet M, Coppens M, Devloo-Blancquaert A
机构信息
Paediactric Cardiology and Genetic Department, University Hospital, State University of Ghent, Belgium.
出版信息
Br Heart J. 1988 Jul;60(1):69-71. doi: 10.1136/hrt.60.1.69.
A review of 63 patients with 45X karyotype (Turner's syndrome) admitted to a hospital from 1972 to 1985 showed that 20 (32%) had one or more major cardiac malformations (mostly coarctation and aortic stenosis). Four (20%) died in the neonatal. One infant had mitral stenosis and severe aortic stenosis and died at the age of 35 days. The three (15%) other patients who died had a typical hypoplastic left heart syndrome, with an atretic aortic valve in two and pinpoint aortic valve in one. Turner's syndrome was clinically suspected in three of the cases. One of these had mosaicism (46XX,45X) the others had a 45X pattern. During the same period (1972-85) 39 patients (14 girls and 25 boys) were admitted with diagnosis of hypoplastic left heart syndrome. Three (21.4%) girls had a 45X karyotype. The high incidence of hypoplastic left heart syndrome in Turner's syndrome and of Turner's syndrome in girls with hypoplastic left heart syndrome suggests that hypoplastic left heart syndrome can be another expression of the 45X karyotype.
对1972年至1985年期间收治入院的63例核型为45,X（特纳综合征）的患者进行回顾性研究发现，20例（32%）存在一种或多种严重心脏畸形（多数为主动脉缩窄和主动脉狭窄）。4例（20%）在新生儿期死亡。1例婴儿患有二尖瓣狭窄和严重主动脉狭窄，35天时死亡。另外3例（15%）死亡患者患有典型的左心发育不全综合征，其中2例主动脉瓣闭锁，1例主动脉瓣细小。3例患者临床上怀疑患有特纳综合征。其中1例为嵌合体（46,XX/45,X），其余2例为45,X核型。在同一时期（1972 - 1985年），39例诊断为左心发育不全综合征的患者（14例女孩和25例男孩）入院。3例（21.4%）女孩核型为45,X。特纳综合征患者中左心发育不全综合征的高发病率以及左心发育不全综合征女孩中特纳综合征的高发病率表明，左心发育不全综合征可能是45,X核型的另一种表现形式。
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