Wang Xianmin, Liu Jiaxin, Su Wen, Liu Beibei, Li Lixing, Yan Duo, Wan Weiyi, Luo Tongyong
Pediatric Cardiology Center, Sichuan Provincial Women's and Children's Hospital, Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
Department of Population Care, Sichuan Provincial Women's and Children's Hospital, Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
PLoS One. 2025 Apr 16;20(4):e0319709. doi: 10.1371/journal.pone.0319709. eCollection 2025.
Congenital heart disease (CHD) is the most prevalent congenital disorder, contributing significantly to neonate mortality. Despite advances in diagnosis and treatment, the incidence and risk factors of CHD remain underexplored, particularly in regions with varied altitudes. Sichuan Province, China, with its diverse topography and altitudes, provides a unique opportunity to investigate the epidemiology of CHD across different environmental settings. This study aims to explore the incidence, subtypes, and risk factors of CHD in neonates across high, middle, and low-altitude regions of Sichuan Province. It also seeks to assess the effectiveness of the Sichuan Province Newborn CHD Free Screening Project, the impact of CHD on family economics and child development, and to provide data-driven recommendations for improving CHD prevention and control measures. We will conduct a multicenter, prospective cohort study involving neonates with positive CHD screening results and their families, recruited from three cities representing different altitude levels: Aba Tibetan and Qiang Autonomous Prefecture, Mianyang City, and Guangyuan City. Data collection will include birth characteristics, CHD screening outcomes, parental and gestational histories, and blood samples for genetic analysis. The study will monitor treatment outcomes, economic impact, and the growth and development of the children over time. This study will provide critical insights into the epidemiology of CHD in Sichuan Province, particularly in relation to altitude. The results will help optimize CHD screening and management programs, ultimately improving outcomes for affected children and their families.
先天性心脏病（CHD）是最常见的先天性疾病，是新生儿死亡的重要原因。尽管在诊断和治疗方面取得了进展，但CHD的发病率和危险因素仍未得到充分研究，特别是在海拔高度不同的地区。中国四川省地形和海拔高度多样，为研究不同环境下CHD的流行病学提供了独特的机会。本研究旨在探讨四川省高、中、低海拔地区新生儿CHD的发病率、亚型和危险因素。它还旨在评估四川省新生儿先天性心脏病免费筛查项目的有效性、CHD对家庭经济和儿童发育的影响，并为改进CHD预防和控制措施提供数据驱动的建议。我们将开展一项多中心前瞻性队列研究，研究对象为从代表不同海拔水平的三个城市招募的CHD筛查结果呈阳性的新生儿及其家庭，这三个城市分别是阿坝藏族羌族自治州、绵阳市和广元市。数据收集将包括出生特征、CHD筛查结果、父母和孕期病史，以及用于基因分析的血样。该研究将随时间监测治疗结果、经济影响以及儿童的生长发育情况。本研究将为四川省CHD的流行病学，特别是与海拔高度相关的流行病学提供关键见解。研究结果将有助于优化CHD筛查和管理项目，最终改善患病儿童及其家庭的结局。
