Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, USA.
National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
J Am Med Inform Assoc. 2018 Dec 1;25(12):1634-1642. doi: 10.1093/jamia/ocy127.
The prevalence of moderate or complex (moderate-complex) congenital heart defects (CHDs) among adults is increasing due to improved survival, but many patients experience lapses in specialty care or their CHDs are undocumented in the medical system. There is, to date, no efficient approach to identify this population.
To develop and assess the performance of a risk score to identify adults aged 20-60 years with undocumented specific moderate-complex CHDs from electronic health records (EHR).
We used a case-control study (596 adults with specific moderate-complex CHDs and 2384 controls). We extracted age, race/ethnicity, electrocardiogram (EKG), and blood tests from routine outpatient visits (1/2009 through 12/2012). We used multivariable logistic regression models and a split-sample (4: 1 ratio) approach to develop and internally validate the risk score, respectively. We generated receiver operating characteristic (ROC) c-statistics and Brier scores to assess the ability of models to predict the presence of specific moderate-complex CHDs.
Out of six models, the non-blood biomarker model that included age, sex, and EKG parameters offered a high ROC c-statistic of 0.96 [95% confidence interval: 0.95, 0.97] and low Brier score (0.05) relative to the other models. The adult moderate-complex congenital heart defect risk score demonstrated good accuracy with 96.4% sensitivity and 80.0% specificity at a threshold score of 10.
A simple risk score based on age, sex, and EKG parameters offers early proof of concept and may help accurately identify adults with specific moderate-complex CHDs from routine EHR systems who may benefit from specialty care.
由于存活率的提高，成年人中中度或复杂（中度复杂）先天性心脏病（CHD）的患病率正在增加，但许多患者在专业护理方面存在疏漏，或者他们的 CHD 在医疗系统中没有记录。迄今为止，还没有有效的方法来识别这一人群。
开发并评估一种风险评分，以从电子健康记录（EHR）中识别出 20-60 岁年龄组、患有未记录的特定中度复杂 CHD 的成年人。
我们使用了病例对照研究（596 名患有特定中度复杂 CHD 的成年人和 2384 名对照者）。我们从常规门诊就诊中提取年龄、种族/族裔、心电图（EKG）和血液检查（2009 年 1 月至 2012 年 12 月）。我们分别使用多变量逻辑回归模型和拆分样本（4:1 比例）方法来开发和内部验证风险评分。我们生成了接收者操作特征（ROC）曲线下面积（c 统计量）和 Brier 评分，以评估模型预测特定中度复杂 CHD 存在的能力。
在六个模型中，包含年龄、性别和 EKG 参数的非血液生物标志物模型的 ROC c 统计量为 0.96 [95%置信区间：0.95，0.97]，Brier 评分（0.05）较低，与其他模型相比。成人中度复杂先天性心脏病风险评分具有较高的准确性，阈值评分为 10 时，敏感性为 96.4%，特异性为 80.0%。
基于年龄、性别和 EKG 参数的简单风险评分提供了早期概念验证，并可能有助于从常规 EHR 系统中准确识别出患有特定中度复杂 CHD 的成年人，这些成年人可能受益于专业护理。
