Pugnaloni Flaminia, Felici Alessandro, Corno Antonio-Francesco, Marino Bruno, Versacci Paolo, Putotto Carolina
Department of Maternal Infantile and Urological Sciences, "Sapienza" University of Rome, Rome, Italy.
Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Transl Pediatr. 2023 Sep 18;12(9):1753-1764. doi: 10.21037/tp-23-260. Epub 2023 Sep 11.
Congenital heart defects (CHD) represent the most frequent human birth defects, occurring in almost 1% of all live newborns. Understanding the effects of gender in the prevalence of CHD has a key role in defining personalized prevention, disease identification, prognosis definition and individualized therapeutic strategies. Recently, the attempt to achieve a holistic approach to patients with CHD cannot be separated from accounting for existing gender differences. The main aim of this narrative review is to provide an overview of gender differences in the epidemiology of CHD.
A standardized research through three electronic databases (PubMed/Scopus/Embase) was performed using a combination of keywords and Medical Subject Headings (MeSH) terms to include congenital heart diseases, gender difference(s), prevalence. Observational, prospective, population based and retrospective studies reporting gender differences in the prevalence of CHD were included. Conference abstracts were excluded as well as studies not written in English language and non-human studies. Further relevant papers were selected by hand-searching of the references list of selected articles.
Search results returned 1,904 papers. Screening articles by title and abstracts resulted in 17 articles for full text review. Of these, 10 were included for analysis and additional 11 articles were included after hand searching review of reference lists. A total of 21 articles were included.
Our narrative review confirms that there is a significant gender variation in specific CHD subgroups. In particular, we summarized the evidence that there is a significantly greater risk for males to be born with severe CHD and for females with milder CHD subtypes. The etiology of the different distribution of CHD among genders is still under investigation and a deeper understanding of how gender influences the risk for CHD is warranted. In the future, a gender-based management of CHD should become an established medical approach.
先天性心脏病（CHD）是最常见的人类出生缺陷，几乎在1%的活产新生儿中出现。了解性别对CHD患病率的影响在确定个性化预防、疾病识别、预后定义和个体化治疗策略方面具有关键作用。最近，要实现对CHD患者的整体治疗方法，就不能不考虑现有的性别差异。本叙述性综述的主要目的是概述CHD流行病学中的性别差异。
通过三个电子数据库（PubMed/Scopus/Embase）进行标准化研究，使用关键词和医学主题词（MeSH）术语的组合，纳入先天性心脏病、性别差异、患病率等内容。纳入报告CHD患病率性别差异的观察性、前瞻性、基于人群的和回顾性研究。会议摘要以及非英文撰写的研究和非人类研究被排除。通过手工检索所选文章的参考文献列表，选择了更多相关论文。
检索结果返回1904篇论文。通过标题和摘要筛选文章后，有17篇文章进行全文审查。其中，10篇纳入分析，在对手工检索参考文献列表进行审查后又纳入了11篇文章。总共纳入21篇文章。
我们的叙述性综述证实，特定CHD亚组中存在显著的性别差异。特别是，我们总结了证据表明，男性患严重CHD的风险显著更高，而女性患较轻CHD亚型的风险更高。CHD在不同性别中分布差异的病因仍在研究中，有必要更深入地了解性别如何影响CHD风险。未来，基于性别的CHD管理应成为一种既定的医学方法。
