Dataset Information

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

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.

SUBMITTER: Knight DRT

PROVIDER: S-EPMC10982405 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature

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Publications

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

Knight Dacre R T DRT Bruno Katelyn A KA Singh Ayush A Munipalli Bala B Gajarawala Shilpa S Solomon Mahima M Kocsis S Christian SC Darakjian Ashley A AA Jain Angita A Whelan Emily R ER Kotha Archana A Gorelov David J DJ Phillips Sabrina D SD Fairweather DeLisa D

Frontiers in cardiovascular medicine 20240318

<h4>Background</h4>Defective connective tissue structure may cause individuals with hypermobile Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorders (HSD) to develop cardiac defects.<h4>Methods</h4>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 phys ...[more]

PMID: 38562189

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Project description:The reported prevalence of hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos Syndrome (hEDS) is unclear due to complex presentations and lack of awareness amongst professionals, contributing to diagnostic and management uncertainties. Standardising an outcome measure to assess symptoms most important to patients should help determine the impact of interventions. This Delphi study aims to reach a consensus with stakeholders on the core outcome set for children and adults with HSD/hEDS. A three-round modified Delphi consensus study with a follow-up consensus meeting was used. Stakeholder groups consisted of (1) individuals with HSD/hEDS; (2) family/friends/carers and (3) healthcare professionals. Participants could belong to more than one stakeholder group. They rated 74 symptoms using a 9-point Likert scale: 1 "not important to 9 "critically important". Symptoms achieving a consensus rating of ≥ 70.0% critical importance across all groups were included. In Round 1, 766 responses were received from 600 participants, reducing to 566 responses from 438 participants by Round 3, with 53 participating in the consensus meeting. Overall, 30 symptoms met the ≥ 70.0% critically important threshold to be included in the final core outcome set. These were categorised under the specialties of musculoskeletal and orthopaedics, social, pain, gynaecology and urology, negative affect, neurological, gastrointestinal and "other". This study is the first to identify by consensus the core outcome set to be measured for patients with HSD/hEDS. The importance of these outcomes was confirmed by individuals living with the condition, their family, friends, carers and relevant healthcare professionals. Trial registration: IRAS ID: 326,855; East Midlands - Leicester South REC (reference: 23/EM/0143); Protocol registered with the COMET Initiative. Key Points • There is a lack of standardised outcome measure for HSD/hEDS research studies due to the heterogeneity of symptom presentations. • Symptoms across musculoskeletal and orthopaedics, social, pain, gynaecology and urology, negative affect, neurological, gastrointestinal and "other" specialties were identified as the core outcome set defined as ≥ 70.0% critically important to measure for individuals with HSD/hEDS. • There were a significant number of symptoms, widely recognised in the literature to be comorbid to HSD/hEDS, that reached a critical importance threshold of 50.0-69.9%, restricting the core outcome set to only those that met 70% or above may be limiting.

Dataset Information

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

Background

Methods

Results

Conclusions

Publications

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

Similar Datasets

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