Clinical characteristics of heterotaxy syndrome with congenital heart defects: A ten-year single-center experience

Aim: Congenital heart defects (CHDs) are a major component of heterotaxy syndrome (HS), contributing significantly to high morbidity and mortality. The anatomical variability, surgical complexity, and poor prognosis of HS-associated CHDs present major clinical challenges.

Material and Methods: We retrospectively reviewed 292 patients diagnosed with HS and CHDs at The First Hospital of Tsinghua University between January 2014 and December 2023. Demographic information and cardiac imaging data were collected to analyze the spectrum of cardiac malformations, spleen anatomy, sex distribution, and the frequency and distribution of major structural abnormalities.

Results:  The cohort included 292 patients (mean age 6.8±8.7 years), with females accounting for 40.8%. Dextrocardia was present in 50%. The asplenia type was most common (42.8%), followed by unisplenia (41.8%) and polysplenia (15.4%). The most frequent cardiac malformations were single ventricle (61.9%), conotruncal anomalies (54.5%), and pulmonary stenosis (42.8%). The overall incidence of anomalous pulmonary venous connection was 7.8%, with total anomalous pulmonary venous connection (TAPVC) accounting for 6.8%. Gender analysis revealed a significantly higher proportion of males in the asplenia group (66.4% vs. 33.6%, P<0.05) and in the unisplenia group (59.0% vs. 41.0%, P<0.05). Although females were more frequent in the polysplenia group (57.8% vs. 42.2%), the difference was not statistically significant (P>0.05).

Conclusion: HS with CHDs presents with complex and diverse anatomical abnormalities and is associated with challenging management and poor prognosis. This ten-year single-center study provides a comprehensive overview of the clinical spectrum of HS-associated CHDs and reveals significant sex differences among patients with asplenia, unisplenia, and polysplenia. These findings may contribute to clinical classification, preoperative assessment, and individualized management strategies.