Turner syndrome in girls presenting with coarctation of the aorta

Eckhauser, Aaron; South, Sarah T.; Meyers, Lindsay; Bleyl, Steven B.; Botto, Lorenzo D.

doi:10.1016/j.jpeds.2015.08.002

Cited by 50Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesCongenital Heart Disease StudiesSexual Differentiation and Disorders

Turner syndrome in girls presenting with coarctation of the aorta

Eckhauser, Aaron, South, Sarah T., Meyers, Lindsay, Bleyl, Steven B., Botto, Lorenzo D.·2015·The Journal of Pediatrics

DOI 10.1016/j.jpeds.2015.08.002

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Abstract

Objective To evaluate the frequency of Turner syndrome in a population-based, statewide cohort of girls with coarctation of the aorta.Study design The Utah Birth Defects Network was used to ascertain a cohort of girls between 1997 and 2011 with coarctation of the aorta. Livebirths with isolated coarctation of the aorta or transverse arch hypoplasia were included and patients with complex congenital heart disease not usually seen in Turner syndrome were excluded.Results Of 244 girls with coarctation of the aorta, 77 patients were excluded, leaving a cohort of 167 girls; 86 patients (51%) had chromosomal studies and 21 (12.6%) were diagnosed with Turner syndrome. All patients were diagnosed within the first 4 months of life and 5 (24%) were diagnosed prenatally. Fifteen patients (71%) had Turner syndrome-related findings in addition to coarctation of the aorta. Girls with mosaicism were less likely to have Turner syndrome-associated findings (3/6 mosaic girls compared with 12/17 girls with non-mosaic 45,X). Twelve girls (57%) diagnosed with Turner syndrome also had a bicommissural aortic valve.Conclusion At least 12.6% of girls born with coarctation of the aorta have karyotype-confirmed Turner syndrome. Such a high frequency, combined with the clinical benefits of an early diagnosis, supports genetic screening for Turner syndrome in girls presenting with coarctation of the aorta.

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Coarctation should be viewed as an independent marker of TS.
“At least 13% of newborn girls with aortic coarctation have TS, and coarctation should be viewed as an independent marker of TS.394”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [394]
At least 13% of newborn girls with aortic coarctation have TS.
“At least 13% of newborn girls with aortic coarctation have TS, and coarctation should be viewed as an independent marker of TS.394”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [394]

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Authors: Eckhauser, A., South, S. T., Meyers, L., Bleyl, S. B., & Botto, L. D.
Affiliations: Intermountain Healthcare (US)
University of Utah (US)
Corresponding author: Eckhauser, Aaron
ORCID: Eckhauser, Aaron
Meyers, Lindsay
Botto, Lorenzo D.
Venue: The Journal of Pediatrics
Publisher: Elsevier BV
Published: 2015-11
Volume: 167
Issue: 5
Pages: 1062-1066
ISSN: 0022-3476 (ISSN-L)
DOI: 10.1016/j.jpeds.2015.08.002
OpenAlex: W2136740180
Cited by: 50
References: 43
Citations by year: 2026: 2 · 2025: 6 · 2024: 8 · 2023: 2 · 2022: 5 · 2021: 7 · 2020: 3 · 2019: 5 · 2018: 7 · 2017: 4 · 2016: 1
FWCI: 2.73
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: The Journal of Pediatrics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Health Sciences › Medicine › Epidemiology › Congenital Heart Disease Studies
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Keywords: Turner syndrome, coarctation of the aorta, bicuspid aortic valve, prenatal diagnosis, genetic screening, congenital heart disease
MeSH terms: Adolescent, Aortic Coarctation, Child, Child, Preschool, Female, Genetic Testing, Humans, Retrospective Studies, Turner Syndrome, Utah, Incidence

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Turner syndrome in girls presenting with coarctation of the aorta

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