{"doi":"10.3389/fcvm.2024.1332508","title":"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.","journal":"Frontiers in Cardiovascular Medicine","year":2024,"id":434987,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":12,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.7514,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":40577,"name":"Katelyn A. Bruno","orcid":"0000-0001-8980-6059","position":1,"is_corresponding":false},{"id":471197,"name":"Ayush Singh","orcid":"0000-0002-3795-5623","position":2,"is_corresponding":false},{"id":1229658,"name":"Bala Munipalli","orcid":"0000-0002-1188-5495","position":3,"is_corresponding":false},{"id":1229657,"name":"Shilpa Gajarawala","orcid":"0000-0002-8891-6157","position":4,"is_corresponding":false},{"id":1242157,"name":"Mahima Solomon","orcid":null,"position":5,"is_corresponding":false},{"id":1230096,"name":"S Kocsis","orcid":null,"position":6,"is_corresponding":false},{"id":1039316,"name":"Ashley A. Darakjian","orcid":"0009-0001-1913-9200","position":7,"is_corresponding":false},{"id":666956,"name":"Angita Jain","orcid":"0000-0003-1391-8139","position":8,"is_corresponding":false},{"id":734052,"name":"Emily R. Whelan","orcid":"0000-0002-0410-0549","position":9,"is_corresponding":false},{"id":895848,"name":"Archana Kotha","orcid":null,"position":10,"is_corresponding":false},{"id":1242158,"name":"David J. Gorelov","orcid":null,"position":11,"is_corresponding":false},{"id":681961,"name":"Sabrina D. Phillips","orcid":"0000-0003-4577-9882","position":12,"is_corresponding":false},{"id":248042,"name":"DeLisa Fairweather","orcid":"0000-0003-3093-1810","position":13,"is_corresponding":false},{"id":895405,"name":"Dacre Knight","orcid":"0000-0001-6206-0680","position":0,"is_corresponding":true}],"reference_count":19,"raw_metadata":null,"created_at":"2026-07-19T01:59:58.582186Z","pmid":"38562189","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}