Sex differences in patterns of cardiovascular referral in patients with Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes

Abstract

Background

Diagnosis of Marfan (MFS), Ehlers-Danlos (EDS), and Loeys-Dietz (LDS) syndromes often warrants specialized evaluation for screening and surveillance of aortic disease. This study aims to characterize the rate of referral to cardiovascular medicine and cardiothoracic surgery in male and female patients diagnosed with MFS, EDS, or LDS.

Methods

We conducted a retrospective review of patients with genetic or clinical diagnoses of MFS, EDS, or LDS from electronic medical records in a large healthcare system between 2013 and 2022. We explored the referral pattern to cardiovascular medicine and cardiothoracic surgery based on connective tissue disease and sex.

Results

A total of 995 patients were identified (74% female), including 242 with MFS (41% female), 772 with EDS (87% female), and 31 with LDS (48% female). Referral rates to cardiovascular medicine and cardiothoracic surgery were 69% and 14%, respectively, with significantly higher rates for male patients compared to female patients (77% vs 66% [P = .001] and 33% vs 7.3% [P < .001], respectively). Referral to cardiovascular medicine was 90% for MFS patients, 61% for EDS patients, and 94% for LDS patients, without a significant sex difference. Referral to cardiothoracic surgery for MFS, EDS, and LDS was 38%, 2.9%, and 48%, respectively. Among patients with aortic pathologies (n = 160), male patients had a higher rate of referral to cardiothoracic surgery compared to female patients (76% vs 58%; P = .016). There was no significant sex difference in maximum indexed aortic diameters.

Conclusions

Patients with MFS and LDS had high referral rates to cardiovascular medicine. Female patients with connective tissue diseases are less likely than male patients to be referred to cardiovascular medicine, particularly those with aortic pathologies.