Association of ocular manifestations of Marfan syndrome with cardiovascular complications

Purpose To evaluate associations between ocular manifestations of Marfan syndrome and cardiovascular complications. Design retrospective cohort study Methods Setting: TriNetX Analytics platform, a federated health research network of aggregated deidentified electronic health record data of over 119 million patients. Study Population: Patients diagnosed with Marfan syndrome. Observation Procedure: Univariate logistic regression models were used to evaluate the association of ocular manifestations of Marfan syndrome (such as retinal tears/detachment, lens dislocation, and myopia), with cardiovascular comorbidities. Additional sensitivity analyses were performed using propensity matching. Main Outcome Measures: Odds ratio and 95% confidence intervals for incidence of cardiovascular comorbidities (including aortic dissection, valvular disease, and arrhythmias) following diagnosis of Marfan syndrome. Results 19,105 patients were identified that were diagnosed with Marfan disease without ocular manifestations, and an additional 3,887 Marfan patients with ocular comorbidities. Patients who were diagnosed with ocular disease included 883 with ectopic lens, 417 with retinal tear or detachment, 683 with aphakia, 534 with pseudophakia, and 2,465 with myopia. Patients with any ocular manifestations of Marfan were significantly more likely to be diagnosed with all cardiovascular comorbidities modeled including aortic aneurysm and dissection (OR=2.035; p=<0.0001), mitral valve prolapse (OR=2.725; p= p=<0.0001), tricuspid valve disorders (OR=2.142; p=<0.0001), cardiac arrhythmias (OR=1.836; p=<0.0001), and all cardiovascular outcomes combined (OR=2.194; p=<0.0001). Conclusions In a large and diverse cohort of patients with Marfan syndrome, ocular manifestations of the disorder appear strongly associated with cardiovascular comorbidities.