Darthmouth Hitchcock Medical Center, Lebanon, New Hampshire.
Children's National Health System, Washington, District of Columbia.
Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):36-46. doi: 10.1002/ajmg.c.31769. Epub 2020 Feb 6.
The etiology of congenital heart disease (CHD) is multifactorial. The birth prevalence of CHD is shaped by a wide variety of maternal, fetal, and neonatal risk factors, along with the rates of prenatal diagnosis and terminations of pregnancy, all of which have geographic variability Epidemiology data availability from low-and-middle-income countries (LMIC) on CHD prevalence, morbidity, and mortality are far more limited than from high income countries. Data on specific genetic, environmental, and prenatal risk associated with CHD are almost nonexistent. In this article, we will focus on defining what data are available, genetic risk factors, birth and overall prevalence, morbidity, and the impact of limited access to interventions, both surgery and cardiac catheterizations. We will highlight CHD in sub-Saharan Africa to detail epidemiology studies in the poorest regions of the world. Existing literature as well as estimates from the Global Burden of Disease Study (http://ghdx.healthdata.org) form the basis for this review. The intersection of poverty, high fertility rates, and limited access to care results in a unique profile of CHD in LMIC. CHD is not a preventable disease (by most standards), so early detection and access are our key interventions to improve the dire outcomes for children in low-resources settings of the world.
先天性心脏病（CHD）的病因是多因素的。CHD 的出生流行率受多种母体、胎儿和新生儿危险因素的影响，以及产前诊断和终止妊娠的比率，所有这些都具有地域变异性。来自中低收入国家（LMIC）的 CHD 患病率、发病率和死亡率的流行病学数据比高收入国家有限得多。关于与 CHD 相关的特定遗传、环境和产前风险的数据几乎不存在。在本文中，我们将重点讨论可用的数据、遗传风险因素、出生和总体流行率、发病率以及有限干预措施（包括手术和心导管术）的影响。我们将重点介绍撒哈拉以南非洲的 CHD，详细介绍世界上最贫穷地区的流行病学研究。本综述的基础是现有文献以及全球疾病负担研究（http://ghdx.healthdata.org）的估计。贫困、高生育率和获得医疗服务的机会有限这三者的交集导致了 LMIC 中 CHD 的独特特征。CHD （按大多数标准）不是一种可预防的疾病，因此早期发现和获得治疗是改善世界资源匮乏地区儿童严峻结局的关键干预措施。
