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Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome
Open AccessArticle

Arterial Elasticity in Ehlers-Danlos Syndromes

Department of Neural and Behavioral Sciences, Penn State College of Medicine, Hershey, PA 17033, USA
Department of Surgery, Penn State College of Medicine, Hershey, PA 17033, USA
Department of Neurology, Medical University of South Carolina, Charleston, SC 29425, USA
Department of Medicine, Penn State College of Medicine, Hershey, PA 17033, USA
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA
Author to whom correspondence should be addressed.
Genes 2020, 11(1), 55;
Received: 13 November 2019 / Revised: 31 December 2019 / Accepted: 2 January 2020 / Published: 4 January 2020
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 ± 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 > 0.05). Between EDS types, there were no differences in supine hemodynamics or PWV measures (p > 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. View Full-Text
Keywords: Ehlers-Danlos syndromes; pulse wave velocity; blood pressure; orthostatic intolerance Ehlers-Danlos syndromes; pulse wave velocity; blood pressure; orthostatic intolerance
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Miller, A.J.; Schubart, J.R.; Sheehan, T.; Bascom, R.; Francomano, C.A. Arterial Elasticity in Ehlers-Danlos Syndromes. Genes 2020, 11, 55.

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