Global research trends in heterotaxy syndrome with congenital heart defects: a 20-year bibliometric analysis (2006–2025)

Background: Heterotaxy syndrome (HS) is a rare and complex congenital disorder characterized by abnormal development of the left-right axis and heterogeneous cardiovascular malformations. HS is associated with substantial morbidity and mortality, posing significant clinical challenges. Despite surgical advances, global research trends in HS remain poorly characterized. This study aimed to systematically analyze the global research landscape of HS from 2006 to 2025 using bibliometric methods, identify emerging themes, and highlight areas of clinical relevance.

Methods: Publications on HS published from 2006 to 2025 were retrieved from the Web of Science Core Collection. Bibliometric analyses were performed using CiteSpace and VOSviewer to assess publication trends, collaboration networks, journal distributions, and research hotspots.

Results: A total of 493 publications involving 2,548 authors from 184 journals were included. Overall, publication output increased over time, peaking in 2022. The United States was the leading contributor to research productivity; Harvard Medical School and Boston Children’s Hospital were the leading institutions. Anderson RH was identified as the most prolific author, whereas Cardiology in the Young was the most productive journal in this field. Keyword and co-citation analyses revealed a transition from anatomical classification and staged surgical palliation toward genetic mechanisms, prognostic assessment, and long-term outcome evaluation.

Conclusions: HS research remains in an evolving stage of development. This study outlines emerging research directions and thematic trends as the first bibliometric analysis in this field. These findings provide clinicians and researchers with a clearer understanding of the current research landscape and may serve as a reference for future investigations aimed at improving the management and outcomes of patients with HS.