Holt-Oram综合征是一种常染色体显性疾病,以心脏和上肢缺陷为特征。霍尔特和奥兰是1960年第一个讲述这一点的人。Holt-Oram综合征是心手综合征的原型,最近已被定位到12号染色体的长臂(12q2)。1960年,玛丽·霍尔特博士和塞缪尔·奥拉姆博士描述了这种综合症。它是由位于染色体12q24.1上的TBX5中的突变引起的常染色体显性病症,其调节心脏和肢体形态发生。必须与II型心脏-手综合征(Tobatznik综合征)和III型心脏-手综合征(MIM编号。140450),表型相似。后者不映射到12q2,并且在这些情况下不会发生房间隔缺损。这种综合征的特征在于心脏问题以及拇指发育不全或发育不全。它有时被称为心房指综合征,上肢-心血管综合征,心手综合征,心脏病综合征,或心脏肢体综合症。其他上肢异常包括桡骨发育不全或发育不全,手臂长度变化,不典型的前臂旋前和旋后,不常见的拇指阻力,倾斜的肩膀,和限制肩膀运动。所有受影响的人都有异常的腕骨,这可能是疾病的唯一征兆.75%的Holt-Oram综合征患者有先天性心脏缺陷,最常影响隔膜。在这种情况下,我们报告了一个4岁零6个月大的女孩,是一个已知的Holt-Oram综合征伴房间隔缺损的病例。她接受了设备关闭,并因发烧和咳嗽来到儿科手术。
Holt-Oram syndrome is an autosomal dominant condition marked by heart and upper limb defects. Holt and Oram were the first to narrate this in 1960. Holt-Oram syndrome is the prototype of heart-hand syndromes and has recently been mapped to the long arm of chromosome 12 (12q2). This syndrome was described in 1960 by Dr Mary Holt and Dr Samuel Oram. It is an autosomal dominant condition resulting from a mutation in
TBX5 located on chromosome 12q24.1, which regulates cardiac and limb morphogenesis. It must be differentiated from heart-hand syndrome type II (Tobatznik\'s syndrome) and heart-hand syndrome type III (MIM No. 140450), which are phenotypically similar. The latter do not map to 12q2, and atrial septal defects do not occur in these conditions. This syndrome is distinguished by heart problems as well as thumb aplasia or hypoplasia. It is sometimes referred to as atriodigital syndrome, upper limb-cardiovascular syndrome, heart-hand syndrome, cardiomelic syndrome, or cardiac limb syndrome. Other upper-limb anomalies include aplasia or hypoplasia of the radius, arm length variation, atypical forearm pronation and supination, uncommon thumb resistance, sloping shoulders, and restricted shoulder movement. All those who are affected have an aberrant carpal bone, which might be the only sign of the illness. Seventy-five percent of those with Holt-Oram syndrome have a congenital cardiac defect, which most frequently affects the septum. In this case, we report a girl who is 4 years and 6 months old and is a known case of Holt-Oram syndrome with an atrial septal defect. She underwent device closure and had come to the pediatric op with fever and cough.