Morphological and functional echocardiographic findings in pediatric patients diagnosed with hypermobile Ehlers-Danlos syndrome
Introduction: Hypermobile Ehlers-Danlos syndrome (hEDS) is a connective tissue disorder that may involve the cardiovascular system. While mitral valve prolapse (MVP) and aortic root dilatation (ARD) have been documented in adults with hEDS, their prevalence in children remains unclear. Methods: This study evaluated 28 pediatric patients with hEDS and 28 age- and body surface area-matched healthy controls using two-dimensional echocardiography, Doppler, Tissue Doppler Imaging (TDI), and Speckle Tracking Echocardiography (STE), including global longitudinal strain (GLS) analysis. Results: = 0.01), but not with EF. Discussion: These findings suggest that cardiac alterations such as MVP can manifest in childhood and that subtle myocardial impairment can occur despite normal EF. STE and GLS analyses are valuable tools for the early detection of functional abnormalities. Routine cardiac follow-up in pediatric hEDS patients may help identify and monitor these early cardiovascular changes, potentially improving long-term outcomes.
Authors
- Filippo Camerota (ORCID: https://orcid.org/0000-0002-0268-4026)
- Paolo Versacci (ORCID: https://orcid.org/0000-0002-4484-4729)
- Emanuele Monda (ORCID: https://orcid.org/0000-0001-9304-988X)
- Gioia Mastromoro (ORCID: https://orcid.org/0000-0003-0788-1683)
- Annapaola Cirillo
- Francesco Carlomagno (ORCID: https://orcid.org/0000-0001-5611-4101)
- Mauro Celli (ORCID: https://orcid.org/0000-0002-0751-2688)
- Carolina Putotto (ORCID: https://orcid.org/0000-0003-3778-3769)
- Walter Vignaroli (ORCID: https://orcid.org/0000-0002-7262-4424)
- Luca Celli (ORCID: https://orcid.org/0000-0001-8657-8118)
- Claudia Celletti (ORCID: https://orcid.org/0000-0001-7154-5882)
- Anna Zambrano
- Bruno Marino
Institutions
- Agostino Gemelli University Polyclinic (IT)
- Ospedale San Carlo (IT)
- University of Campania "Luigi Vanvitelli" (IT)
- Health & Life (Taiwan) (TW)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2026-04-22
- DOI
- https://doi.org/10.3389/fped.2026.1768520
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00