Key result
Male sex is linked to ~17% higher cardiovascular referral rates in Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes.
Why the study?
Diagnosis of Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes warrants specialized aortic evaluation, but referral rates to cardiovascular medicine and cardiothoracic surgery by sex remained uncharacterized.
Are there sex differences in the rate of referral to cardiovascular medicine and cardiothoracic surgery among patients with Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes?
Observational (n=995)
Are there sex differences in the rate of referral to cardiovascular medicine and cardiothoracic surgery among patients with Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes?
Absolute Event Rate: 77% vs 66%
p-value: p=0.001
Female patients with connective tissue diseases, particularly those with aortic pathologies, are significantly less likely than male patients to be referred to cardiovascular medicine and cardiothoracic surgery.
Suggests possible sex disparities in specialist referral; leaves open whether targeted interventions improve equity or outcomes.
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.
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Waldron et al. (2025) conducted an observational in Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes (n=995). Male sex vs. Female sex was evaluated on Referral to cardiovascular medicine (p=0.001). Male patients with Marfan, Ehlers-Danlos, or Loeys-Dietz syndromes had significantly higher rates of referral to cardiovascular medicine than female patients (77% vs 66%, P=0.001).
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