Objectives This study assessed the frequency and utility of echocardiographic examination in patients with all forms of Ehlers‐Danlos syndrome and sought to identify clinical variables associated with an abnormal echocardiogram. Design/setting This was a retrospective study of all patients carrying a diagnosis of Ehlers‐Danlos syndrome of any type who were evaluated by a pediatrician or pediatric subspecialist at a single tertiary medical center with an affiliated children’s hospital during the period January 2013 to December 2018. Patients Chart review was performed on all patients carrying a diagnosis of Ehlers‐Danlos syndrome in the electronic medical record. Outcome Measures Data from genetics examination, cardiovascular examination where applicable, genetic test results when available, and echocardiography were recorded. Results Of 262 patients identified, echocardiography and cardiac evaluation were common occurring in 90% and 50% of patients with any form of Ehlers‐Danlos syndrome. Cardiovascular complications occurred in 50% of patients with vascular Ehlers‐Danlos syndrome but echocardiography was normal in all. Aortic dilation was common in classic Ehlers‐Danlos syndrome but absent in hypermobile Ehlers‐Danlos syndrome. Mitral valve prolapse and bicuspid aortic valve occurred at the same incidence as the general population. Cardiac symptoms were present in 12% but did not correlate with abnormal cardiac structure. Presentation with symptoms of musculoskeletal pain was inversely related to the presence of cardiac pathology. Conclusions In light of the absence of cardiac pathology in patients with hypermobile Ehlers‐Danlos syndrome, routine cardiac evaluation and echocardiography are not required for patients with hypermobile Ehlers‐Danlos syndrome.

Objective:This prospective observational study evaluates the utility of expert focused cardiac ultrasound (eFCU) with spectral Doppler to inform decision making in established patients with specific, selected congenital cardiac defects in outreach clinics. Secondary objectives include determining if the addition of eFCU expands capacity in paediatric cardiology outreach clinics and if it improves the patient experience.Methods:Patients aged 2 months to 19 years old with a diagnosis of ventricular septal defect, atrial septal defect, atrioventricular septal defect, patent ductus arteriosus, aortic valve stenosis, or pulmonary valve stenosis with the need for follow-up echocardiography in an outreach clinic from August 2017 to June 2018 were studied. A novel assessment tool was used to determine the success of eFCU.Results:Forty-two patients from 11 clinics underwent eFCU with one unsuccessful exam making the failure rate 2.3% (95% CI 0.0006–0.1256). Addition of eFCU led to a significant increase in volume of patients able to be seen 19 versus 15.5 (p < 0.01). A majority of parents/patients reported a positive experience with eFCU.Conclusion:Expert focused cardiac ultrasound with spectral Doppler can be used successfully for follow-up in patients with select CHD and the addition of eFCU permits increased patient capacity in outreach clinics and has the potential to improve the patient experience.