全球精选文摘 - 心脏外特征预测成人先天性心脏病22q11.2 染色体缺失综合征

高级搜索

免费注册

首页

期刊文献

全球精选文摘

中国作者重要发表

爱思唯尔期刊精选全文

柳叶刀中文版精选全文

2009年诺贝尔奖得主文章

成功投稿经验系列访谈

2010年度诺贝尔奖得主

医药资讯

医学资讯

药品动态

诊疗指南

病例分析

数据库

会议精粹

柳叶刀流感峰会

2009世界高血压大会

辉瑞中国医学研究高峰论坛

上海东方呼吸病国际论坛

GAP-CCBC系列会议

精品书籍

爱思唯尔参考书

新书订购活动

疾病资源

专家博客

当前位置 > > > >

心脏外特征预测成人先天性心脏病22q11.2 染色体缺失综合征

Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease

Fung WLA, Chow EWC, Webb GD 2009/5/27 10:48:50

【发表评论】【全球专家评论】

打印| 推荐给好友

Int J Cardiol, 2008,

专家评级：

★★

循证评级：

View at Publisher

Abstract
Background and Objectives:
22q11.2 Deletion Syndrome (22q11.2DS) is an important genetic syndrome to cardiologists yet remains under-recognized in adults. There is no evidence-based guideline for genetic testing referrals. Feasibility issues in many jurisdictions preclude testing for 22q11.2 deletions in every congenital cardiac patient. We aimed to determine an optimal combination of extracardiac features that could be clinically helpful in identifying adults with tetralogy of Fallot (TOF) and related conotruncal anomalies at highest risk for 22q11.2DS.

Methods:
Adults (n=103) at a congenital cardiac clinic (86 with TOF) had a brief clinical screening assessment and genetic testing for 22q11.2 deletions using standard fluorescence in-situ hybridization; 31 had a 22q11.2 deletion. Discriminant ability (DA), defined as (sensitivity+specificity)/2, was used to measure performance of 18 (17 clinical and one demographic) features in predicting 22q11.2DS (DA>80%=a good screening test).

Results:
Combining two features was required for a good test: a global impression of 22q11.2DS dysmorphic facies, with either learning difficulties (DA=82.4%) or voice abnormalities such as hypernasality (DA=81.6%). A four-feature combination (suggestive dysmorphic facies, voice abnormalities, learning difficulties and age <30 years) yielded maximal sensitivity (100%) and DA>85% at a cut-off of three features. Neither rates of right aortic arch or cardiac surgery differed between patients with and without 22q11.2 deletions.

Conclusions:
Clinicians who consider as few as two extracardiac features readily detectable in a brief clinical encounter could help identify those with 22q11.2DS among adults with congenital heart disease. Diagnosis of 22q11.2DS is important for optimizing management of these complex patients

请登录后发表评论，点击此处登录。

全部学科

疾病资源中心

高血压	慢性阻塞性肺病
脂肪性肝病	糖尿病
卒中	肺癌
冠心病	子宫内膜异位症
结直肠癌	乳腺癌
心力衰竭	心律失常

病例分析 [栏目介绍]

甲状腺功能亢进合并黄疸

王燕燕王曙

上海交通大学附属瑞金医院内分泌科

患者，女，69岁。2009年1月无明显诱因下出现乏力，当时程度较轻，未予以重视。2009年3月患者乏力症状加重，尿色逐渐加深，大便习惯改变，颜色变淡。4月18日入我院感染科治疗，诉轻度头晕、心慌，体重减轻10kg。无肝区疼痛，无发热，无腹痛、腹泻、腹胀、里急后重，无恶性、呕吐等。入院半月前于外院就诊，查肝功能：ALT 601IU/L，AST 785IU/L，TBIL 97.7umol/L，白蛋白 41g/L，甲状腺功能：游离T3 30.6pmol/L，游离T4 51.9pmol/L，心电图示快速房颤。

更多>>>

医学数据库