Congenital heart disease in 22q11.2 deletion syndrome: a meta-analysis and systematic review of the literature.

IF 3.7 2区 医学 Q2 GENETICS & HEREDITY
Carina Sauter, Michael Hofbeck, Paula Franz, Laura Kettenstock, Klara Steger, Matthias Linhardt, Andrea Reiter, Stefan Störk, Marcel Romanos, Franziska Radtke
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Abstract

The 22q11.2 deletion syndrome (22q11.2DS) results from a heterozygous deletion at chromosomal locus 22q11.2 and is associated with multisystem symptoms, including cardiovascular, psychiatric and palatal manifestations. Although congenital cardiovascular aberrations are frequent in patients with 22q11.DS, exact prevalence figures remain unclear. Literature was searched in August 2022 and updated in May 2024 using the databases PubMed, Web of Science and Cochrane library to retrieve studies in English and German focusing only on studies involving 22q11.2DS. Prevalence data for cardiovascular aberrations were arcsine transformed and summarised by random-effects models using Meta-XL. Evidence quality was assessed via the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) approach. The systematic searches identified 4338 studies, of which 7 were included for the meta-analysis of prevalence using random-effects models and sensitivity analyses. The pooled prevalence for heart defects (mean; 95% CI) was found to be elevated for tetralogy of Fallot (20%; 0.17 to 0.23), ventricular septal defect (14%; 0.12 to 0.16), pulmonary atresia with ventricular septal defect (9%; 0.06; 0.12), interrupted aortic arch (10%; 0.06 to 0.15), truncus arteriosus communis (9%; 0.07 to 0.12) and atrial septal defect (3%; 0.01 to 0.04). The risk of bias of the included studies was low to moderate. This study, to our knowledge, represents the first systematic review and meta-analysis of prevalences for congenital cardiovascular aberrations in individuals with 22q11.2DS. The high frequencies observed underline the need for cardiovascular screening in patients with 22q11.2DS and genetic screening for 22q11.2DS in congenital heart disease.

22q11.2缺失综合征的先天性心脏病:文献荟萃分析和系统回顾
22q11.2缺失综合征(22q11.2 ds)是由染色体22q11.2位点的杂合缺失引起的,并与多系统症状相关,包括心血管、精神和腭部表现。尽管先天性心血管畸变在22q11患者中很常见。确切的患病率数字仍不清楚。文献于2022年8月检索,并于2024年5月更新,使用PubMed、Web of Science和Cochrane library数据库检索英语和德语研究,仅关注涉及22q11.2DS的研究。采用Meta-XL随机效应模型对心血管畸变患病率数据进行反正弦变换和汇总。通过推荐、评估、发展和评价分级(GRADE)方法评估证据质量。系统检索确定了4338项研究,其中7项纳入了使用随机效应模型和敏感性分析的患病率荟萃分析。心脏缺陷的总患病率(平均;95% CI)发现法洛四联症升高(20%;0.17 ~ 0.23),室间隔缺损(14%;0.12 ~ 0.16),肺动脉闭锁合并室间隔缺损(9%;0.06;0.12),主动脉弓中断(10%;0.06 ~ 0.15),公共动脉干(9%;0.07 ~ 0.12)和房间隔缺损(3%;0.01 ~ 0.04)。纳入研究的偏倚风险为低至中等。据我们所知,这项研究首次对22q11.2DS患者先天性心血管异常患病率进行了系统回顾和荟萃分析。观察到的高频率强调了对22q11.2DS患者进行心血管筛查和先天性心脏病患者进行22q11.2DS遗传筛查的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Medical Genetics
Journal of Medical Genetics 医学-遗传学
CiteScore
7.60
自引率
2.50%
发文量
92
审稿时长
4-8 weeks
期刊介绍: Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.
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