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

• Published in: Frontiers in cardiovascular medicine Vol. 11; p. 1332508
• Main Authors: Knight, Dacre R T, Bruno, Katelyn A, Singh, Ayush, Munipalli, Bala, Gajarawala, Shilpa, Solomon, Mahima, Kocsis, S Christian, Darakjian, Ashley A, Jain, Angita, Whelan, Emily R, Kotha, Archana, Gorelov, David J, Phillips, Sabrina D, Fairweather, DeLisa
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 18.03.2024
• Subjects: aortic root dilation; Cardiovascular Medicine; echocardiogram; hypermobility; prevalence; valve prolapse; prevalence; hypermobility; aortic root dilation; echocardiogram; valve prolapse
• ISSN: 2297-055X; 2297-055X
• DOI: 10.3389/fcvm.2024.1332508

Defective connective tissue structure may cause individuals with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD) to develop cardiac defects. We 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 ( = 568). The 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 (  = 0.034) or brain aneurysm (  = 0.015) had a significantly larger average adult aortic root z-score. In contrast, patients with HSD that self-reported dysautonomia (  = 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. These 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.