Cited by 65Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesAortic Disease and Treatment ApproachesConnective tissue disorders research

Aortic dimensions in Turner syndrome

Quezada, Emilio, Lapidus, Jodi, Shaughnessy, Robin, Chen, Zunqiu, Silberbach, Michael·2015·American Journal of Medical Genetics Part A

Abstract

In Turner syndrome, linear growth is less than the general population. Consequently, to assess stature in Turner syndrome, condition-specific comparators have been employed. Similar reference curves for cardiac structures in Turner syndrome are currently unavailable. Accurate assessment of the aorta is particularly critical in Turner syndrome because aortic dissection and rupture occur more frequently than in the general population. Furthermore, comparisons to references calculated from the taller general population with the shorter Turner syndrome population can lead to over-estimation of aortic size causing stigmatization, medicalization, and potentially over-treatment. We used echocardiography to measure aortic diameters at eight levels of the thoracic aorta in 481 healthy girls and women with Turner syndrome who ranged in age from two to seventy years. Univariate and multivariate linear regression analyses were performed to assess the influence of karyotype, age, body mass index, bicuspid aortic valve, blood pressure, history of renal disease, thyroid disease, or growth hormone therapy. Because only bicuspid aortic valve was found to independently affect aortic size, subjects with bicuspid aortic valve were excluded from the analysis. Regression equations for aortic diameters were calculated and Z-scores corresponding to 1, 2, and 3 standard deviations from the mean were plotted against body surface area. The information presented here will allow clinicians and other caregivers to calculate aortic Z-scores using a Turner-based reference population. © 2015 Wiley Periodicals, Inc.

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Crossref · 10.1002/ajmg.a.37208

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  • In one study, AHI showed greater predictive value compared to the absolute diameter, Z-score, or ASI.

    “In practice, AHI is easiest to use and in one study showed greater predictive value compared to the absolute diameter, Z-score, or ASI. This is probably due to the prevalence of obesity, which can deflate the ASI or Z-score (Table 13).233,234,445”
  • The greater predictive value of AHI is probably due to the prevalence of obesity, which can deflate the ASI or Z-score.

    “In practice, AHI is easiest to use and in one study showed greater predictive value compared to the absolute diameter, Z-score, or ASI. This is probably due to the prevalence of obesity, which can deflate the ASI or Z-score (Table 13).233,234,445”

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Authors
Quezada, E., Lapidus, J., Shaughnessy, R., Chen, Z., & Silberbach, M.
Affiliations
Oregon Health & Science University (US)
Corresponding author
Quezada, Emilio
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2015-06-27
Volume
167
Issue
11
Pages
2527-2532
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
OpenAlex
W1584515765
Cited by
65
References
16
Citations by year
2026: 5 · 2025: 8 · 2024: 7 · 2023: 4 · 2022: 8 · 2021: 5 · 2020: 6 · 2019: 9 · 2018: 9 · 2017: 3 · 2016: 1
FWCI
2.96
Type
journal article
Language
en
Open access
closed
Locations
  • American Journal of Medical Genetics Part A (publishedVersion)
  • PubMed (publishedVersion)
Funders
Oregon Clinical and Translational Research Institute
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Aortic Disease and Treatment Approaches
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Keywords
Turner syndrome, aortic dimensions, aortic diameter, reference curves, bicuspid aortic valve, aortic dissection, aortic rupture, body surface area, echocardiography, growth hormone therapy, body mass index
MeSH terms
Adolescent, Adult, Aged, Aorta, Body Surface Area, Child, Child, Preschool, Demography, Electrocardiography, Humans, Middle Aged, Turner Syndrome, Ultrasonography, Young Adult

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