Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Sep 15;20(1):417.
doi: 10.1186/s12872-020-01684-x.

Increased augmentation index in patients with Ehlers-Danlos syndrome

Maurice Roeder  1 , Sira Thiel  1 , Frederic Baumann  2 , Noriane A Sievi  1 , Marianne Rohrbach  3 , Malcolm Kohler  4   5 , Thomas Gaisl  1
Affiliations

Increased augmentation index in patients with Ehlers-Danlos syndrome

Maurice Roeder et al. BMC Cardiovasc Disord. .

Abstract

Background: Ehlers-Danlos Syndrome (EDS) comprises a heterogeneous group of diseases characterized by joint hypermobility, connective tissue friability, and vascular fragility. Reliable prognostic factors predicting vascular disease progression (e.g. arterial aneurysms, dissections, and ruptures) in EDS patients are still missing. Recently, applanation tonometry derived augmentation index (AIx), an indirect marker of arterial stiffness, has shown to be positively associated with progression of aortic disease in Marfan syndrome. In this study, we assessed aortic AIx in patients with EDS and matched healthy controls.

Methods: We performed noninvasive applanation tonometry in 61 adults with EDS (43 women and 18 men aged 39.3 ± 14.6 years) and 61 age-, gender-, height-, and weight-matched healthy controls. Radial artery pulse waveforms were recorded and analyzed using the SphygmoCor System (AtCor Medical, Sydney, NSW, Australia). Calculated AIx was adjusted to a heart rate of 75/min. Groups were compared and association between AIx and EDS was determined by univariate and multivariate regression analysis.

Results: EDS patients were categorized in classical type EDS (34%), hypermobile type EDS (43%), vascular type EDS (5%), or remained unassignable (18%) due to overlapping features. EDS patients showed a significantly increased aortic AIx compared to healthy controls (22.8% ± 10.1 vs 14.8% ± 14.0, p < 0.001). EDS showed a positive association with AIx; independent of age, sex, height, blood pressure, medication, and pack years of smoking.

Conclusions: Patients with EDS showed elevated AIx, indicating increased arterial stiffness when compared to healthy controls. Further investigations are needed in order to assess the prognostic value of increased AIx for cardiovascular outcomes in patients with EDS.

Keywords: Arterial stiffness; Augmentation index; Cardiovascular risk; Ehlers-Danlos syndrome.

PubMed Disclaimer

Conflict of interest statement

None.

Figures

Fig. 1
Fig. 1
Study flow chart. The majority of the study participants were recruited by hospital-wide screening of electronic databases (Children’s Hospital Zurich and University Hospital Zurich). 200 study participants were enrolled, and 122 participants were included in the final analysis. EDS, Ehlers-Danlos syndrome. AIx, Augmentation Index
Fig. 2
Fig. 2
Box plots for aortic augmentation index adjusted to heart rate of 75/min by groups
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Genetic Home Reference, https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome#statistics, accessed on 04 August 2020.
    1. Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C: Semin Med Genet. 2017;175(1):8–26. - PubMed
    1. Malfait F. Vascular aspects of the Ehlers-Danlos Syndromes. Matrix Biol. 2018;71–72:380–395. - PubMed
    1. Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV) Gene Med. 2014;16(12):881–888. - PubMed
    1. Brooke BS, Arnaoutakis G, McDonnell NB, Black JH., 3rd Contemporary management of vascular complications associated with Ehlers-Danlos syndrome. J Vasc Surg. 2010;51(1):131–138. - PMC - PubMed

Publication types