Waldron Christina, Nasir Afsheen, Wang Kristina, Chou Alan, Erez Ely, Vallabhajosyula Prashanth, Assi Roland
Division of Cardiac Surgery, Department of Surgery, Yale University School of Medicine, New Haven, Conn.
JTCVS Open. 2025 Jan 21;24:1-15. doi: 10.1016/j.xjon.2025.01.002. eCollection 2025 Apr.
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.
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.
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% [ = .001] and 33% vs 7.3% [ < .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%; = .016). There was no significant sex difference in maximum indexed aortic diameters.
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.
马凡综合征（MFS）、埃勒斯-当洛综合征（EDS）和洛伊迪茨综合征（LDS）的诊断通常需要进行专门评估，以筛查和监测主动脉疾病。本研究旨在描述被诊断为MFS、EDS或LDS的男性和女性患者转诊至心血管内科和心胸外科的比例。
我们对2013年至2022年期间在一个大型医疗系统中通过电子病历确诊为MFS、EDS或LDS的患者进行了回顾性研究。我们根据结缔组织疾病和性别探究了转诊至心血管内科和心胸外科的模式。
共识别出995例患者（74%为女性），其中242例患有MFS（41%为女性），772例患有EDS（87%为女性），31例患有LDS（48%为女性）。转诊至心血管内科和心胸外科的比例分别为69%和14%，男性患者的转诊率显著高于女性患者（分别为77%对66% [P = 0.001]和33%对7.3% [P < 0.001]）。MFS患者转诊至心血管内科的比例为90%，EDS患者为61%，LDS患者为94%，无显著性别差异。MFS、EDS和LDS患者转诊至心胸外科的比例分别为38%、2.9%和48%。在患有主动脉病变的患者（n = 160）中，男性患者转诊至心胸外科的比例高于女性患者（76%对58%；P = 0.016）。最大主动脉指数直径无显著性别差异。
MFS和LDS患者转诊至心血管内科的比例较高。患有结缔组织疾病的女性患者比男性患者更不可能被转诊至心血管内科，尤其是那些患有主动脉病变的患者。
