Patel Angira, Costello John M, Backer Carl L, Pasquali Sara K, Hill Kevin D, Wallace Amelia S, Jacobs Jeffrey P, Jacobs Marshall L
Division of Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Division of Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Ann Thorac Surg. 2016 Nov;102(5):1607-1614. doi: 10.1016/j.athoracsur.2016.04.008. Epub 2016 Jun 17.
Among patients with congenital heart disease (CHD), the coexistence of noncardiac congenital anatomic abnormalities (NC), genetic abnormalities (GA), and syndromes (S) may influence therapeutic strategies and outcomes. The appreciated prevalence of these abnormalities has risen because increased screening and improved diagnostic precision enable identification of these comorbidities in a larger fraction of neonates with CHD. We examined the contemporary prevalence and distribution of NC/GA/S across diagnostic groups among neonates undergoing cardiac operations using a large nationally representative clinical registry.
The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) was queried to identify neonates (≤30 days) who underwent index cardiac operations from 2010 to 2013. The fundamental cardiac diagnosis was used to identify 10 diagnostic groups. The prevalence of NC/GA/S was reported across each group.
The cohort included 15,376 index neonatal operations from 112 centers. Overall, 18.8% (2,894 of 15,376) of operations were performed in neonates with NC/GA/S. Patients with atrioventricular septal defect (212 of 357 [59.4%]), interrupted aortic arch (248 of 567 [43.7%]), truncus arteriosus (204 of 554 [36.8%]), and tetralogy of Fallot (417 of 1,383 [30.2%]) had the highest prevalence of NC/GA/S abnormalities, whereas those with transposition of the great arteries (111 of 2,778 [4.0%]) had the lowest prevalence. The most commonly identified NC/GA/S included heterotaxy (597 of 15,376 [3.9%]), DiGeorge syndrome or 22q11 deletion (550 of 15,376 [3.6%]), Down syndrome or trisomy 21 (318 of 15, 376 [2.1%]), intestinal malrotation (220 of 15,376 [1.4%]), and Turner syndrome or 45XO (189 of 15,376 [1.2%]).
The prevalence of NC/GA/S varies widely across CHD diagnostic groups. This information may be useful for patient counseling, recommendations for screening for anomalies and genetic disorders, and perioperative management.
在先天性心脏病（CHD）患者中，非心脏先天性解剖异常（NC）、基因异常（GA）和综合征（S）的共存可能会影响治疗策略和治疗结果。由于筛查增加和诊断精度提高，使得在更大比例的先天性心脏病新生儿中能够识别出这些合并症，因此这些异常的已知患病率有所上升。我们使用一个具有全国代表性的大型临床登记数据库，研究了接受心脏手术的新生儿中NC/GA/S在各诊断组中的当代患病率及分布情况。
查询胸外科医师协会先天性心脏病手术数据库（STS-CHSD），以确定2010年至2013年期间接受首次心脏手术的新生儿（≤30天）。根据基本心脏诊断确定10个诊断组。报告了每组中NC/GA/S的患病率。
该队列包括来自112个中心的15376例首次新生儿手术。总体而言，18.8%（15376例中的2894例）的手术是在患有NC/GA/S的新生儿中进行的。房室间隔缺损患者（357例中的212例[59.4%]）、主动脉弓中断患者（567例中的248例[43.7%]）、动脉干畸形患者（554例中的204例[36.8%]）和法洛四联症患者（1383例中的417例[30.2%]）的NC/GA/S异常患病率最高，而大动脉转位患者（2778例中的111例[4.0%]）的患病率最低。最常发现的NC/GA/S包括内脏异位（15376例中的597例[3.9%]）、DiGeorge综合征或22q11缺失（15376例中的550例[3.6%]）、唐氏综合征或21三体（15376例中的318例[2.1%]）、肠旋转不良（15376例中的220例[1.4%]）和特纳综合征或45XO（15376例中的189例[1.2%]）。
NC/GA/S的患病率在先天性心脏病各诊断组中差异很大。这些信息可能有助于患者咨询、异常和遗传疾病筛查建议以及围手术期管理。
