The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders, immunodeficiency, recurrent infections, neurodevelopmental and psychiatric disorders, and congenital heart disease. Approximately 60-80% of patients have a cardiac malformation most commonly including a subset of conotruncal defects (tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B), conoventricular and/or atrial septal defects, and aortic arch anomalies. Cardiac patients with a 22q11.2 deletion do not generally experience higher mortality upon surgical intervention but suffer more peri-operative complications than their non-syndromic counterparts. New guidelines suggest screening for a 22q11.2 deletion in the patient with tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, conoventricular septal defects as well as those with an isolated aortic arch anomaly. Early identification of a 22q11.2 deletion in the neonate or infant when other syndromic features may not be apparent allows for timely parental screening for reproductive counseling and anticipatory evaluation of cardiac and noncardiac features. Screening the at-risk child or adult allows for important age-specific clinical, neurodevelopmental, psychiatric, and reproductive issues to be addressed.

中文翻译：

---

22q11.2缺失综合征和先天性心脏病。

22q11.2缺失综合征的患病率估计为4-6,000例。表型差异很大。最常见的特征包括：面部畸形，低钙血症，上颚和言语障碍，进食和胃肠道疾病，免疫缺陷，反复感染，神经发育和精神疾病以及先天性心脏病。大约60-80％的患者患有心脏畸形，最常见的是包括一部分圆锥锥缺损（法洛氏四联症，大动脉截骨，B型主动脉弓间断），心室和/或房间隔缺损以及主动脉弓畸形。具有22q11.2缺失的心脏病患者通常在手术干预后死亡率不会更高，但与非综合征患者相比，围手术期并发症更多。新的指南建议对患有法洛氏四联症，大动脉截骨，B型主动脉弓中断，室间隔缺损以及孤立的主动脉弓畸形的患者进行四联症筛查22q11.2缺失。当其他症状可能不明显时，及早发现新生儿或婴儿中的22q11.2缺失，可以及时进行父母筛查，以进行生殖咨询以及对心脏和非心脏功能的预期评估。对高危儿童或成人进行筛查可以解决特定于年龄的重要临床，神经发育，精神病和生殖问题。当其他症状可能不明显时，及早发现新生儿或婴儿中的22q11.2缺失，可以及时对父母进行筛查，以进行生殖咨询以及对心脏和非心脏功能的预期评估。对高危儿童或成人进行筛查可以解决特定于年龄的重要临床，神经发育，精神病和生殖问题。当其他症状可能不明显时，及早发现新生儿或婴儿中的22q11.2缺失，可以及时进行父母筛查，以进行生殖咨询以及对心脏和非心脏功能的预期评估。对高危儿童或成人进行筛查可以解决特定于年龄的重要临床，神经发育，精神病和生殖问题。