Rosa Rafael Fabiano Machado, Trevisan Patrícia, Koshiyama Dayane Bohn, Pilla Carlo Benatti, Zen Paulo Ricardo Gazzola, Varella-Garcia Marileila, Paskulin Giorgio Adriano
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS.
Rev Assoc Med Bras (1992). 2011 Jan-Feb;57(1):62-5.
Investigate the frequency of 22q11 deletion syndrome among patients with complex congenital heart disease.
A prospective and consecutive cohort of patients with complex heart defects was evaluated in their first hospitalization at a cardiac intensive care unit of a pediatric hospital. For each patient a protocol of demographic and clinical evaluation was filled. High resolution karyotype and 22q11 microdeletion by fluorescence in situ hybridization was investigated. The heart defects were classified by a cardiologist of the study.
The cohort comprised 66 patients. Karyotypic anomalies were observed in 5 patients (7.6%), however none of those was the 22q11 deletion. Evaluation by means of FISH was successful in 65 patients and 22q11 microdeletion was identified in 2 (3.1%). Of the 66 patients with complex defects, 52 were carriers of conotruncal malformations and in 51 the 22q11 microdeletion analysis by FISH was successful. Both 22q11 microdeletion carriers belonged to this group, representing a frequency of 3.9%. They presented tetralogy of Fallot.
22q11DS is a frequent abnormality among patients with complex and conotruncal heart defects. Variations of the 22q11DS frequency among studies seem to be mainly associated to criteria for patient selection and specific characteristics of the population in analysis.
调查复杂先天性心脏病患者中22q11缺失综合征的发生率。
对一家儿科医院心脏重症监护病房首次住院的复杂心脏缺陷患者进行前瞻性连续队列研究。为每位患者填写一份人口统计学和临床评估方案。研究了高分辨率核型和荧光原位杂交检测22q11微缺失情况。心脏缺陷由该研究的一名心脏病专家进行分类。
该队列包括66例患者。5例（7.6%）观察到核型异常，但均非22q11缺失。65例患者通过荧光原位杂交成功评估，2例（3.1%）检测到22q11微缺失。在66例复杂缺陷患者中，52例为圆锥动脉干畸形携带者，51例通过荧光原位杂交成功进行了22q11微缺失分析。2例22q11微缺失携带者均属于该组，发生率为3.9%。他们表现为法洛四联症。
22q11缺失综合征在复杂和圆锥动脉干心脏缺陷患者中是一种常见异常。不同研究中22q11缺失综合征发生率的差异似乎主要与患者选择标准和分析人群的特定特征有关。
