Cardiac defects of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective cohort study

Cardiac defects of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective cohort study

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BackgroundDefective connective tissue structure may Upright Freezer cause individuals with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD) to develop cardiac defects.MethodsWe conducted a retrospective chart review of adult patients treated in the EDS Clinic from November 1, 2019, to June 20, 2022 to identify those with cardiac defects.Echocardiogram data were collected using a data collection service.All EDS Clinic patients were evaluated by a single physician and diagnosed according to the 2017 EDS diagnostic criteria.

Patient demographic, family and cardiac history were extracted from self-reported responses from a REDCap clinical intake questionnaire.Patients with at least 1 available echocardiogram (ECHO) were selected for the study (n = 568).ResultsThe prevalence of aortic root dilation in patients with hEDS was 2.7% and for HSD was 0.

6%, with larger measurements for males than females and with age.Based on self-reported cardiac history that was verified from the medical record, patients with hEDS with bradycardia (p = 0.034) or brain aneurysm (p = 0.015) had Black a significantly larger average adult aortic root z-score.

In contrast, patients with HSD that self-reported dysautonomia (p = 0.019) had a significantly larger average aortic root z-score.The prevalence of diagnosed mitral valve prolapse in patients with hEDS was 3.5% and HSD was 1.

8%.Variants of uncertain significance were identified in 16 of 84 patients that received genetic testing based on family history.ConclusionsThese data reveal a low prevalence of cardiac defects in a large cohort of well-characterized hEDS and HSD patients.Differences in cardiovascular issues were not observed between patients with hEDS vs.

HSD; and our findings suggest that cardiac defects in patients with hEDS or HSD are similar to the general population.