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Cited by 18Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesCongenital Heart Disease StudiesWilliams Syndrome Research

Cardiovascular manifestations of Turner syndrome: phenotypic differences between karyotype subtypes

Birjiniuk, Alona, Weisman, Allison Goetsch, Laternser, Christina, Camarda, Joseph, Brickman, Wendy J., Habiby, Reema, Patel, Sheetal R.·2024·Pediatric Cardiology
DOI 10.1007/s00246-023-03159-0
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Abstract

Turner syndrome (TS) is a genetic disorder presenting in phenotypic females with total or partial monosomy of the X chromosome. Cardiovascular abnormalities are common, including congenital heart defects (CHD) and aortic dilation. Although mosaic TS is suspected to have less severe phenotype as compared to non-mosaic TS, differences in cardiovascular manifestations between karyotypes are not well studied. This is a single-center retrospective cohort study including patients with TS seen from 2000 to 2022. Demographic data, chromosomal analysis, and imaging were reviewed. Karyotypes were categorized as monosomy X (45X), 45X mosaicism, isochromosome Xq, partial X deletions, ring X (r(X)), TS with Y material, and others. Prevalence of CHD and aortic dilation were compared between monosomy X and other subtypes using Pearson's chi-square test and Welch two-sample t-test. We included 182 TS patients with median age 18 (range 4-33) years. CHD was more common in monosomy X as compared with others (61.4% vs. 26.8%, p < 0.001), including bicuspid aortic valve (44.3% vs. 16.1%, p < 0.001), partial anomalous pulmonary venous return (12.9% vs. 2.7%, p = 0.023), persistent left superior vena cava (12.9% vs. 1.8%, p = 0.008), and coarctation of the aorta (20.0% vs. 4.5%, p = 0.003). Cardiac surgery (24.3% vs. 8.9%, p = 0.017) was more prevalent in the monosomy X group. There was no statistically significant difference for presence of aortic dilation (7.1% vs 1.8%, p = 0.187). Although CHD and need for cardiac surgery are more common in TS with monosomy X as compared to others, all TS subtypes may have similar risk of developing aortic dilation. All TS patients should have similar cardiovascular surveillance testing to monitor for aortic dilation.

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  • The prevalence of CHD is higher in individuals with 45,X karyotypes compared to individuals with X mosaicism or other X structural abnormalities.

    “The prevalence is higher in individuals with 45,X karyotypes compared to individuals with X mosaicism or other X structural abnormalities.389-391”

    From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [391]

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Authors
Birjiniuk, A., Weisman, A. G., Laternser, C., Camarda, J., Brickman, W. J., Habiby, R., & Patel, S. R.
Affiliations
Northwestern University (US)
Corresponding author
Patel, Sheetal R.
ORCID
Venue
Pediatric Cardiology
Publisher
Springer Science and Business Media LLC
Published
2023-05-05
Volume
45
Issue
7
Pages
1407-1414
ISSN
  • 0172-0643 (ISSN-L)
  • 1432-1971
DOI
10.1007/s00246-023-03159-0
OpenAlex
W4372279701
Cited by
18
References
20
Citations by year
2026: 5 · 2025: 9 · 2024: 4
FWCI
2.98
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Pediatric Cardiology (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 › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords
Turner syndrome, cardiovascular manifestations, congenital heart disease, aortic dilatation, monosomy X, isochromosome Xq, bicuspid aortic valve, coarctation of the aorta, partial anomalous pulmonary venous return, persistent left superior vena cava, cardiac surgery, cardiovascular surveillance
MeSH terms
Adolescent, Adult, Child, Child, Preschool, Female, Heart Defects, Congenital, Humans, Karyotyping, Mosaicism, Phenotype, Retrospective Studies, Turner Syndrome, Chromosomes, Human, X, Young Adult, Karyotype

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