Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies
Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies
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DOI：
10.1016/j.jacc.2004.10.056
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发表时间：
2005-02-15
影响因子：
24
通讯作者：
Michels, VV
中科院分区：
文献类型：
--
作者：
Beauchesne, LM;Warnes, CA;Michels, VV
目的本研究旨在确定22q11.2微缺失在成人conotruncal畸形患者中的患病率和临床表现，并评估临床医生根据临床特征预测是否存在22q11.2微缺失的能力。背景22q11.2微缺失是一种具有心脏和心外表现的染色体异常。成人的患病率和表现尚未很好地表征。方法采用荧光原位杂交（FISH）技术，对103例法洛四联症（TOF）、肺闭锁/室间隔缺损（PA/VSD）或动脉干（TA）患者进行22q11.2微缺失的前瞻性筛选。临床医生被要求根据临床特征预测22q11.2微缺失状态。一位对FISH检测结果不知情的遗传学家回顾了22q11.2微缺失的典型畸形特征的患者照片。结果6例患者（患病率5.8%，95%可信区间1.3 ~ 10.3）存在22q11.2微缺失（TOF 3例，PA/VSD 2例，TA 1例）。在其中两名患者中，临床医生错误地预测了缺失的缺失。其中3例缺失22q11.2微缺失的典型畸形特征。结论：我们的研究表明22q11.2微缺失在成人先天性心脏病患者中未被充分认识。典型表型特征的缺失使得很难正确预测是否存在缺失。成人高危心脏病变患者应考虑22q11.2微缺失筛查，因为它对生殖咨询和相关心外表现的监测具有重要意义。(C) 2005年由美国心脏病学会基金会发布。
OBJECTIVES This study was designed to determine the prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies and to assess the clinician's ability to predict the presence or absence of 22q11.2 microdeletion on the basis of clinical features.BACKGROUND It is known that 22q11.2 microdeletion is a chromosomal anomaly with cardiac and extracardiac manifestations. The prevalence and manifestations in adults have not been well characterized.METHODS A total of 103 consecutive adults with either tetralogy of Fallot (TOF), pulmonary atresia/ventricular septal defect (PA/VSD), or truncus arteriosus (TA) were prospectively screened for 22q11.2 microdeletion using a fluorescence in situ hybridization (FISH) assay. Clinicians were asked to predict 22q11.2 microdeletion status on the basis of clinical features. A geneticist blinded to FISH assay results reviewed photographs of the patients for typical dysmorphic features of 22q11.2 microdeletion.RESULTS Six patients (prevalence 5.8%, 95% confidence interval 1.3 to 10.3) had 22q11.2 microdeletion (3 with TOF, 2 with PA/VSD, 1 with TA). In two of these patients, the clinician incorrectly predicted absence of the deletion. In three, typical dysmorphic features of 22q11.2 microdeletion were absent.CONCLUSIONS Our work showed that 22q11.2 microdeletion is under-recognized in adults with congenital heart disease. The absence of typical phenotypic features makes it difficult to correctly predict if the deletion is present. Screening for 22q11.2 microdeletion should be considered in adults with high-risk cardiac lesions, as it has important implications in reproductive counseling and surveillance for associated extracardiac manifestations. (C) 2005 by the American College of Cardiology Foundation.