Department of Pediatrics, Jinan Central Hospital, Shandong University, Jinan, Shandong Province, China.
Department of Cardiology, Jinan Central Hospital, Shandong University, Jinan, Shandong Province, China.
Medicine (Baltimore). 2024 Oct 25;103(43):e40261. doi: 10.1097/MD.0000000000040261.
Genetic factors play a significant role in the development of congenital heart disease (CHD). Many studies on the genetics of CHD have been published worldwide; however, no research has assessed and mapped the global research landscape of these studies. This bibliometric and visualized study aimed to delineate research hotspots and trends in the field of CHD genetics. Scientific papers on the genetics of CHD from January 1, 1950, to December 31, 2023, were obtained by searching the Web of Science Core Collection. The bibliometric metadata of each chosen research paper were extracted, analyzed, and visualized using tools such as Microsoft Excel 2021, VOSviewer, and CiteSpace. The final analysis included 5317 papers discussing the genetics of CHD. The countries and journals that published the highest number of papers were the United States (n = 2118), and American Journal of Medical Genetics Part A (n = 332), respectively. In addition to CHD and genetics, keywords such as tetralogy of Fallot, ventricular septal defect, and atrial septal defect appeared most frequently among 8365 keywords. Eight clusters were formed to categorize the keywords. Keywords such as case-control study, whole genome sequencing, and whole exome sequencing in clusters 6, 7, and 8, respectively, had the latest average publication year among all clusters. To the best of our knowledge, this is the first bibliometric analysis of CHD genetics studies. Tetralogy of Fallot, ventricular septal defect, and atrial septal defect are global research topics. The interactions between environmental and genetic factors in the pathogenesis of CHD, genetic etiology of CHD-associated pulmonary arterial hypertension, and molecular genetics of CHD via high-throughput genomic technology are possible areas of future research on the genetics of CHD.
遗传因素在先天性心脏病（CHD）的发展中起着重要作用。全球已经发表了许多关于 CHD 遗传学的研究；然而，尚无研究评估和绘制这些研究的全球研究格局。本研究采用文献计量和可视化方法，旨在描绘 CHD 遗传学领域的研究热点和趋势。通过检索 Web of Science 核心合集，获取了 1950 年 1 月 1 日至 2023 年 12 月 31 日关于 CHD 遗传学的科学论文。使用 Microsoft Excel 2021、VOSviewer 和 CiteSpace 等工具提取、分析和可视化每个选定研究论文的文献计量元数据。最终分析包括 5317 篇讨论 CHD 遗传学的论文。发表论文数量最多的国家和期刊分别是美国（n=2118）和美国医学遗传学杂志 A 版（n=332）。除了 CHD 和遗传学之外，8365 个关键词中出现频率最高的关键词还包括法洛四联症、室间隔缺损和房间隔缺损。形成了 8 个聚类来对关键词进行分类。聚类 6、7 和 8 中的关键词分别为病例对照研究、全基因组测序和全外显子组测序，它们在所有聚类中的平均发表年份最新。据我们所知，这是首次对 CHD 遗传学研究进行文献计量分析。法洛四联症、室间隔缺损和房间隔缺损是全球研究课题。CHD 发病机制中环境和遗传因素的相互作用、CHD 相关肺动脉高压的遗传病因学以及通过高通量基因组技术的 CHD 分子遗传学，可能是未来 CHD 遗传学研究的方向。
