Furlong-Dillard Jamie M, Amula Venugopal, Bailly David K, Bleyl Steven B, Wilkes Jacob, Bratton Susan L
1Department of Pediatrics, Division Critical Care, University of Utah School of Medicine, Salt Lake City, UT. 2Department of Pediatrics, Division Genetics, University of Utah School of Medicine, Salt Lake City, UT. 3Pediatric Clinical Program, Intermountain Healthcare, Salt Lake City, UT.
Pediatr Crit Care Med. 2017 Sep;18(9):850-858. doi: 10.1097/PCC.0000000000001225.
Congenital heart disease is commonly a manifestation of genetic conditions. Surgery and/or extracorporeal membrane oxygenation were withheld in the past from some patients with genetic conditions. We hypothesized that surgical care of children with genetic conditions has increased over the last decade, but their cardiac extracorporeal membrane oxygenation use remains lower and mortality greater.
Retrospective cohort study.
Patients admitted to the Pediatric Health Information System database 18 years old or younger with cardiac surgery during 2003-2014. Genetic conditions identified by International Classification of Diseases, 9th Edition codes were grouped as follows: trisomy 21, trisomy 13 or 18, 22q11 deletion, and all "other" genetic conditions and compared with patients without genetic condition.
A total of 95,253 patients met study criteria, no genetic conditions (85%), trisomy 21 (10%), trisomy 13 or 18 (0.2%), 22q11 deletion (1%), and others (5%).
None.
Annual surgical cases did not vary over time. Compared to patients without genetic conditions, trisomy 21 patients, extracorporeal membrane oxygenation use was just over half (odds ratio, 0.54), but mortality with and without extracorporeal membrane oxygenation were similar. In trisomy 13 or 18 patients, extracorporeal membrane oxygenation use was similar to those without genetic condition, but all five treated with extracorporeal membrane oxygenation died. 22q11 patients compared with those without genetic condition had similar extracorporeal membrane oxygenation use, but greater odds of extracorporeal membrane oxygenation mortality (odds ratio, 3.44). Other genetic conditions had significantly greater extracorporeal membrane oxygenation use (odds ratio, 1.22), mortality with extracorporeal membrane oxygenation (odds ratio, 1.42), and even greater mortality odds without (odds ratio, 2.62).
The proportion of children undergoing cardiac surgery who have genetic conditions did not increase during the study. Excluding trisomy 13 or 18, all groups of genetic conditions received and benefited from extracorporeal membrane oxygenation, although extracorporeal membrane oxygenation mortality was greater for those with 22q11 deletion and other genetic conditions.
先天性心脏病通常是遗传疾病的一种表现形式。过去，一些患有遗传疾病的患者未接受手术和/或体外膜肺氧合治疗。我们推测，在过去十年中，患有遗传疾病儿童的手术治疗有所增加，但他们的心脏体外膜肺氧合使用率仍然较低，死亡率更高。
回顾性队列研究。
2003年至2014年期间入住儿科健康信息系统数据库且年龄在18岁及以下并接受心脏手术的患者。通过国际疾病分类第9版代码确定的遗传疾病分为以下几类：21三体综合征、13或18三体综合征、22q11缺失综合征，以及所有“其他”遗传疾病，并与无遗传疾病患者进行比较。
共有95253名患者符合研究标准，其中无遗传疾病（85%）、21三体综合征（10%）、13或18三体综合征（0.2%）、22q11缺失综合征（1%）以及其他（5%）。
无。
年度手术病例数未随时间变化。与无遗传疾病的患者相比，21三体综合征患者的体外膜肺氧合使用率仅略高于一半（比值比，0.54），但接受和未接受体外膜肺氧合治疗的死亡率相似。在13或18三体综合征患者中，体外膜肺氧合使用率与无遗传疾病的患者相似，但接受体外膜肺氧合治疗的5名患者全部死亡。22q11缺失综合征患者与无遗传疾病的患者相比，体外膜肺氧合使用率相似，但体外膜肺氧合治疗死亡率的几率更高（比值比，3.44）。其他遗传疾病患者的体外膜肺氧合使用率显著更高（比值比，1.22），接受体外膜肺氧合治疗的死亡率（比值比，1.42），未接受治疗时的死亡几率甚至更高（比值比，2.62）。
在研究期间，患有遗传疾病且接受心脏手术的儿童比例没有增加。排除13或18三体综合征，所有遗传疾病组均接受了体外膜肺氧合治疗并从中受益，尽管22q11缺失综合征和其他遗传疾病患者的体外膜肺氧合治疗死亡率更高。
