Congenital uterine anomalies and congenital heart disease: An underappreciated association?

Background: Congenital uterine anomalies (CUAs), also known as Müllerian duct anomalies, can have an impact on gynecological care, pre-pregnancy counseling, and obstetrical outcomes. Patients with congenital heart disease (CHD), particularly of higher complexity, often have extracardiac manifestations. The relationship between CUAs and CHD is not well-described in the currently available literature. Methods: A single center retrospective cohort study was performed of all patients born female with ICD-10 codes corresponding to congenital heart disease and a completed pelvic MRI or ultrasound. CT imaging was not included given the known shortcomings of CUA detection and classification with CT. CHD diagnoses were confirmed with echocardiography and were classified into "simple", "moderate", or "complex" per the 2018 ACHD guidelines. CUAs were categorized based on the 2021 American Society of Reproductive Medicine Guidelines for classification of Müllerian anomalies. Results: 197 patients met inclusion criteria. 33 (16.7 %) were found to have a CUA. 17 (20 %) patients with moderate or complex CHD had a CUA. Notable associations include VACTERL and partial anomalous pulmonary venous return. More complex CHD was associated with more complex CUA. Conclusions: Within the limitations of a single center retrospective study, our data suggests there is an underappreciated association between CUA and CHD that requires further prospective multicenter study to assess prevalence data. There may ultimately be a role for targeted screening for CUA in patients with CHD, particularly those with genetic syndromes or moderate or complex CHD who are considering pregnancy or gynecologic intervention.