{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T11:22:38Z","timestamp":1768735358092,"version":"3.49.0"},"reference-count":21,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2020,1,4]],"date-time":"2020-01-04T00:00:00Z","timestamp":1578096000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1 TR002014"],"award-info":[{"award-number":["UL1 TR002014"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Ehlers-Danlos Syndromes (EDS) are a group of heritable disorders of connective tissue (HDCT) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Orthostatic intolerance (OI) is highly prevalent in EDS however mechanisms linking OI to EDS remain poorly understood. We hypothesize that impaired blood pressure (BP) and heart rate control is associated with lower arterial stiffness in people with EDS. Orthostatic vital signs and arterial stiffness were assessed in a cohort of 60 people with EDS (49 female, 36 \u00b1 16 years). Arterial elasticity was assessed by central and peripheral pulse wave velocity (PWV). Central PWV was lower in people with EDS compared to reference values in healthy subjects. In participants with EDS, central PWV was correlated to supine systolic BP (r = 0.387, p = 0.002), supine diastolic BP (r = 0.400, p = 0.002), and seated systolic BP (r = 0.399, p = 0.002). There were no significant correlations between PWV and changes in BP or heart rate with standing (p &gt; 0.05). Between EDS types, there were no differences in supine hemodynamics or PWV measures (p &gt; 0.05). These data demonstrate that increased arterial elasticity is associated with lower BP in people with EDS which may contribute to orthostatic symptoms and potentially provides a quantitative clinical measure for future genotype-phenotype investigations.<\/jats:p>","DOI":"10.3390\/genes11010055","type":"journal-article","created":{"date-parts":[[2020,1,6]],"date-time":"2020-01-06T03:48:48Z","timestamp":1578282528000},"page":"55","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Arterial Elasticity in Ehlers-Danlos Syndromes"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6462-1039","authenticated-orcid":false,"given":"Amanda J.","family":"Miller","sequence":"first","affiliation":[{"name":"Department of Neural and Behavioral Sciences, Penn State College of Medicine, Hershey, PA 17033, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane R.","family":"Schubart","sequence":"additional","affiliation":[{"name":"Department of Surgery, Penn State College of Medicine, Hershey, PA 17033, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy","family":"Sheehan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of South Carolina, Charleston, SC 29425, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Bascom","sequence":"additional","affiliation":[{"name":"Department of Medicine, Penn State College of Medicine, Hershey, PA 17033, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clair A.","family":"Francomano","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,1,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/ajmg.c.31552","article-title":"The 2017 international classification of the Ehlers-Danlos syndromes","volume":"175","author":"Malfait","year":"2017","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2981","DOI":"10.1002\/ajmg.a.36293","article-title":"Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients\u2019 lived experience","volume":"161","author":"Murray","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.autneu.2018.02.006","article-title":"Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome","volume":"215","author":"Roma","year":"2018","journal-title":"Auton. Neurosci."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.jns.2014.03.002","article-title":"Ehlers-Danlos Syndrome and Postural Tachycardia Syndrome: A relationship study","volume":"340","author":"Wallman","year":"2014","journal-title":"J. Neurol. Sci."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S0002-9343(03)00235-3","article-title":"Dysautonomia in the joint hypermobility syndrome","volume":"115","author":"Gazit","year":"2003","journal-title":"Am. J. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1093\/rheumatology\/kew032","article-title":"Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome","volume":"55","author":"Rombaut","year":"2016","journal-title":"Rheumatology"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"9161865","DOI":"10.1155\/2017\/9161865","article-title":"Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome\/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?","volume":"2017","author":"Celletti","year":"2017","journal-title":"BioMed Res. Int."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/S0022-3476(99)70173-3","article-title":"Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome","volume":"135","author":"Rowe","year":"1999","journal-title":"J. Pediatr."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"2588","DOI":"10.1093\/eurheartj\/ehl254","article-title":"Expert consensus document on arterial stiffness: Methodological issues and clinical applications","volume":"27","author":"Laurent","year":"2006","journal-title":"Eur. Heart J."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1253\/circj.70.1231","article-title":"Pulse wave analysis and pulse wave velocity: A review of blood pressure interpretation 100 years after Korotkov","volume":"70","author":"Hirata","year":"2006","journal-title":"Circ. J."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1007\/s10286-016-0392-4","article-title":"Cardiovascular profile in postural orthostatic tachycardia syndrome and Ehlers-Danlos syndrome type III","volume":"27","author":"Cheng","year":"2017","journal-title":"Clin. Auton. Res."},{"key":"ref_12","first-page":"1","article-title":"Pulse wave velocity recordings in a family with ecchymotic Ehlers-Danlos syndrome","volume":"5","author":"Francois","year":"1986","journal-title":"Int. Angiol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1890","DOI":"10.1097\/HJH.0000000000000617","article-title":"Carotid stiffness change over the cardiac cycle by ultrafast ultrasound imaging in healthy volunteers and vascular Ehlers-Danlos syndrome","volume":"33","author":"Mirault","year":"2015","journal-title":"J. Hypertens."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1002\/ajmg.a.61054","article-title":"Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization","volume":"179","author":"Bascom","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O","article-title":"Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK)","volume":"77","author":"Beighton","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"David, M., Malti, O., AlGhatrif, M., Wright, J., Canepa, M., and Strait, J.B. (2014). Pulse wave velocity testing in the Baltimore longitudinal study of aging. J. Vis. Exp., e50817.","DOI":"10.3791\/50817"},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Reference Values for Arterial Stiffness Collaboration (2010). Determinants of pulse wave velocity in healthy people and in the presence of cardiovascular risk factors: \u2018establishing normal and reference values\u2019. Eur. Heart J., 31, 2338\u20132350.","DOI":"10.1093\/eurheartj\/ehq165"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1161\/CIRCULATIONAHA.109.886655","article-title":"Arterial stiffness and cardiovascular events: The Framingham Heart Study","volume":"121","author":"Mitchell","year":"2010","journal-title":"Circulation"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1161\/CIRCULATIONAHA.105.579342","article-title":"Prognostic value of aortic pulse wave velocity as index of arterial stiffness in the general population","volume":"113","author":"Staessen","year":"2006","journal-title":"Circulation"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1161\/01.HYP.37.5.1236","article-title":"Aortic stiffness is an independent predictor of all-cause and cardiovascular mortality in hypertensive patients","volume":"37","author":"Laurent","year":"2001","journal-title":"Hypertension"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e41","DOI":"10.1016\/j.hrthm.2015.03.029","article-title":"2015 heart rhythm society expert consensus statement on the diagnosis and treatment of postural tachycardia syndrome, inappropriate sinus tachycardia, and vasovagal syncope","volume":"12","author":"Sheldon","year":"2015","journal-title":"Heart Rhythm"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/1\/55\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T13:42:17Z","timestamp":1760362937000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/1\/55"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,4]]},"references-count":21,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,1]]}},"alternative-id":["genes11010055"],"URL":"https:\/\/doi.org\/10.3390\/genes11010055","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,4]]}}}