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Cardiovascular manifestations of hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders
Open accessAbstract
Introduction: Mitral valve prolapse and aortic root dilatation are reported in association with hypermobile Ehlers–Danlos syndrome (hEDS), but the full phenotypic spectrum of cardiovascular complications in this condition has not been studied in the aftermath of updated nosology and diagnostic criteria. Methods: We performed a retrospective review of 258 patients (> 94% adults) referred to a multidisciplinary clinic for evaluation of joint hypermobility between January 2017 and December 2020 and diagnosed with hEDS or a hypermobility spectrum disorder (HSD) to determine the incidence and spectrum of cardiovascular involvement. Results: Mitral valve prolapse was present in 7.5% and thoracic aortic dilatation in 15.2%. Aortic dilatation was more frequent in individuals with hEDS (20.7%) than with HSD (7.7%) and similarly prevalent between males and females, although was mild in > 90% of females and moderate-to-severe in 50% of males. Five individuals (1.9%) with hEDS/HSD had extra-aortic arterial involvement, including cervical artery dissection (CeAD, n = 2), spontaneous coronary artery dissection (SCAD, n = 2), and SCAD plus celiac artery pseudoaneurysm ( n = 1). This is the first series to report the prevalence of CeAD and SCAD in hEDS/HSD. Conclusions: Cardiovascular manifestations in adults with hEDS/HSD, especially females, are typically mild and readily assessed by echocardiography. Since the risk of progression has not yet been defined, adults with hEDS/HSD who are found to have aortic dilatation at baseline should continue ongoing surveillance to monitor for progressive dilatation. Cardiovascular medicine specialists, neurologists, and neurosurgeons should consider hEDS/HSD on the differential for patients with CeAD or SCAD who also have joint hypermobility.
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The presence of mitral valve prolapse (MVP) or aortic root dilatation on echocardiograph may point to a diagnosis other than a subtype of HSDs.
“The presence of mitral valve prolapse (MVP) or aortic root dilatation on echocardiograph may again point to a diagnosis other than a subtype of HSDs.”
From Hypermobility spectrum disorders: A review (2023) · cites this paper as [48]
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- Sattur S, 2010, Exp Clin Cardiol, 15, e13
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Thwaites, P. A., Gibson, P. R., & Burgell, R. E. (2022) · Journal of Gastroenterology and Hepatology · doi:10.1111/jgh.15927 · Cited by 59
Hypermobility spectrum disorders: A review
Carroll, M. B. (2023) · Rheumatology and Immunology Research · doi:10.2478/rir-2023-0010 · Cited by 45
Metadata
- Authors
- Rashed, E. R., Ruiz Maya, T., Black, J., Fettig, V., Kadian-Dodov, D., Olin, J. W., Mehta, L., Gelb, B. D., & Kontorovich, A. R.
- Affiliations
- Icahn School of Medicine at Mount Sinai (US)
- The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA
- Corresponding author
- Kontorovich, Amy R
- Venue
- Vascular Medicine
- Publisher
- SAGE Publications
- Published
- 2022-01-10
- Volume
- 27
- Issue
- 3
- Pages
- 283-289
- ISSN
- 1358-863X (ISSN-L)
- 1477-0377
- PMC
- PMC9677229
- OpenAlex
- W4205825998
- Cited by
- 34
- References
- 25
- Citations by year
- 2026: 8 · 2025: 9 · 2024: 11 · 2023: 4 · 2022: 2
- FWCI
- 3.92
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Vascular Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Heart, Lung, and Blood Institute (HL135742, HL140083)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Aortic Disease and Treatment Approaches
- Health Sciences › Medicine › Rheumatology › Eosinophilic Disorders and Syndromes
- Keywords
- hypermobile Ehlers-Danlos syndrome, hypermobility spectrum disorders, cardiovascular manifestations, mitral valve prolapse, aortic root dilatation, thoracic aortic dilatation, cervical artery dissection, spontaneous coronary artery dissection, joint hypermobility, sex differences, echocardiography
- MeSH terms
- Adult, Echocardiography, Ehlers-Danlos Syndrome, Female, Humans, Joint Instability, Male, Mitral Valve Prolapse
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