Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah.
Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):23-35. doi: 10.1002/ajmg.c.31775. Epub 2020 Feb 21.
Congenital heart disease (CHD) is common, costly, and critical. Approximately half of all infant deaths due to congenital anomalies are associated with CHD or neural tube defects. As infant mortality improves due to better infection control and peripartum care, congenital anomalies are becoming a key driver of pediatric survival and health. Improving CHD prevention and care globally will play a significant role toward key goals such as United Nation's sustainable development goals (SDGs) of good health and well-being (SDG 3) and reduced inequalities (SDG 10). This review addresses two questions: how can we reinterpret and reframe available data on CHD to spur action in prevention and care? How can we re-engineer how we currently track CHD in populations to efficiently generate new data to assess successes and detect gaps in prevention and care? Answering these questions requires understanding the causal chain of disease, from cause to CHD occurrence to health outcomes. This perspective provides a logical basis for two innovations. First, develop a data-driven message that reframes epidemiologic and clinical data in terms of incentives for action, evidence for change, and strategies for population-wide impact. Second, through partnerships between clinical and public health systems, implement an integrated "triple surveillance," which, in the same population, concurrently tracks the three elements of the causal chain-causes, disease occurrence, health outcomes. By streamlining activities and minimizing operational waste, such systems can have a vital role in improving prevention and care on a population level, including in many low and middle-income countries.
先天性心脏病（CHD）很常见，费用高昂，且情况危急。大约一半因先天性畸形导致的婴儿死亡与 CHD 或神经管缺陷有关。随着感染控制和围产期保健的改善，婴儿死亡率提高，先天性畸形成为儿童生存和健康的关键驱动因素。全球范围内改善 CHD 的预防和治疗将对联合国的良好健康和福祉目标（SDG 3）以及减少不平等目标（SDG 10）等关键目标发挥重要作用。这篇综述探讨了两个问题：我们如何重新解释和重构现有的 CHD 数据，以推动预防和治疗方面的行动？我们如何重新设计当前在人群中跟踪 CHD 的方式，以便有效地生成新数据来评估预防和治疗方面的成功和差距？回答这些问题需要了解疾病的因果链，从病因到 CHD 发生再到健康结果。这种观点为两项创新提供了逻辑依据。首先，制定一个数据驱动的信息，根据行动激励、变革证据和人群影响策略重新构建流行病学和临床数据。其次，通过临床和公共卫生系统之间的合作，实施综合的“三重监测”，在同一人群中同时跟踪因果链的三个要素——病因、疾病发生和健康结果。通过简化活动和最小化运营浪费，这些系统可以在提高人群预防和治疗水平方面发挥重要作用，包括在许多低收入和中等收入国家。
