Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease.
Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease.
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DOI：
10.1161/jaha.122.026369
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发表时间：
2022-10-04
影响因子：
5.4
通讯作者：
Ware, Stephanie M.
中科院分区：
文献类型：
--
作者：
Landis, Benjamin J.;Helm, Benjamin M.;Herrmann, Jeremy L.;Hoover, Madeline C.;Durbin, Matthew D.;Elmore, Lindsey R.;Huang, Manyan;Johansen, Michael;Li, Ming;Przybylowski, Leon F.;Geddes, Gabrielle C.;Ware, Stephanie M.
关键词：
我们的心脏中心建立了一个系统的方法，住院心血管遗传学评估的婴儿先天性心脏病，包括常规染色体微阵列（CMA）测试。这为研究遗传异常与术后病程之间的相关性提供了新的机会。确定了2015年至2020年期间作为新生儿（年龄≤28天）接受先天性心脏病手术的婴儿。排除21三体或18三体。诊断性遗传学结果或CMA具有不确定意义的变异被认为是异常的。我们比较了先天性心脏病初次手术后发现有遗传异常的患者与CMA阴性的患者的术后结局。在355名符合条件的患者中，88%完成了遗传学咨询或CMA。在73名患者（21%）中发现了遗传异常，而221名患者的CMA结果为阴性。遗传异常与早产、心外畸形和手术时体重较低有关。遗传异常患者的手术死亡率为9.6%，而未发现遗传异常的患者为4.1%（P=0.080）。当遗传评估为诊断性（9.3%）或鉴定出CMA上不确定意义的变体（10.0%）时，死亡率相似。在14例22q11.2缺失患者中，2例死亡病例有额外的CMA结果。在无心外畸形的患者中，遗传异常与死亡率增加独立相关（P=0.019）。CMA异常与术后住院时间、体外膜肺氧合或首次拔管时间>7天无关。常规遗传学评估和CMA可能有助于对有综合征或无综合征表现的严重先天性心脏病的死亡风险进行分层。
Our cardiac center established a systematic approach for inpatient cardiovascular genetics evaluations of infants with congenital heart disease, including routine chromosomal microarray (CMA) testing. This provides a new opportunity to investigate correlation between genetic abnormalities and postoperative course. Infants who underwent congenital heart disease surgery as neonates (aged ≤28 days) from 2015 to 2020 were identified. Cases with trisomy 21 or 18 were excluded. Diagnostic genetic results or CMA with variant of uncertain significance were considered abnormal. We compared postoperative outcomes following initial congenital heart disease surgery in patients found to have genetic abnormality to those who had negative CMA. Among 355 eligible patients, genetics consultations or CMA were completed in 88%. A genetic abnormality was identified in 73 patients (21%), whereas 221 had negative CMA results. Genetic abnormality was associated with prematurity, extracardiac anomaly, and lower weight at surgery. Operative mortality rate was 9.6% in patients with a genetic abnormality versus 4.1% in patients without an identified genetic abnormality (P=0.080). Mortality was similar when genetic evaluations were diagnostic (9.3%) or identified a variant of uncertain significance on CMA (10.0%). Among 14 patients with 22q11.2 deletion, the 2 mortality cases had additional CMA findings. In patients without extracardiac anomaly, genetic abnormality was independently associated with increased mortality (P=0.019). CMA abnormality was not associated with postoperative length of hospitalization, extracorporeal membrane oxygenation, or >7 days to initial extubation. Routine genetic evaluations and CMA may help to stratify mortality risk in severe congenital heart disease with syndromic or nonsyndromic presentations.
DOI：
10.1016/j.jpeds.2018.07.022
发表时间：
2018-11
期刊：
The Journal of pediatrics
影响因子：
--
作者：
Dailey-Schwartz AL;Tadros HJ;Azamian MS;Lalani SR;Morris SA;Allen HD;Kim JJ;Landstrom AP
通讯作者：
Landstrom AP