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

Dacre R T Knight; Katelyn A Bruno; Ayush Singh; Bala Munipalli; Shilpa Gajarawala; Mahima Solomon; S Christian Kocsis; Ashley A Darakjian; Angita Jain; Emily R Whelan; Archana Kotha; David J Gorelov; Sabrina D Phillips; DeLisa Fairweather

doi:10.3389/fcvm.2024.1332508

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

Front Cardiovasc Med. 2024 Mar 18:11:1332508. doi: 10.3389/fcvm.2024.1332508. eCollection 2024.

Authors

Dacre R T Knight^#¹, Katelyn A Bruno^#^{1

2

3}, Ayush Singh^#¹, Bala Munipalli¹, Shilpa Gajarawala¹, Mahima Solomon¹, S Christian Kocsis², Ashley A Darakjian², Angita Jain^{2

4

5}, Emily R Whelan^{2

4

5}, Archana Kotha², David J Gorelov², Sabrina D Phillips², DeLisa Fairweather^{1

2

4

6}

Affiliations

¹ Department of General Internal Medicine, Mayo Clinic, Jacksonville, FL, United States.
² Department of Cardiovascular Medicine, Mayo Clinic, Jacksonville, FL, United States.
³ Division of Cardiovascular Medicine, Department of Medicine, University of Florida, Gainesville, FL, United States.
⁴ Center for Clinical and Translational Science, Mayo Clinic, Rochester, MN, United States.
⁵ Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Rochester, MN, United States.
⁶ Department of Immunology, Mayo Clinic, Jacksonville, FL, United States.

^# Contributed equally.

Abstract

Background: Defective connective tissue structure may cause individuals with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD) to develop cardiac defects.

Methods: 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 (n = 568).

Results: 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 (p = 0.034) or brain aneurysm (p = 0.015) had 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.

Conclusions: 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.

Keywords: aortic root dilation; echocardiogram; hypermobility; prevalence; valve prolapse.

Abstract

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