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Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes

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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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No funding was received to assist with the preparation of this manuscript.

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Authors and Affiliations

  1. Division of Cardiology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine, 225 E Chicago Avenue, Box 21, Chicago, IL, 60611-2991, USA

    Alona Birjiniuk, Christina Laternser, Joseph Camarda & Sheetal R. Patel

  2. Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, IL, USA

    Alona Birjiniuk, Allison Goetsch Weisman, Joseph Camarda, Wendy J. Brickman, Reema Habiby & Sheetal R. Patel

  3. Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA

    Allison Goetsch Weisman

  4. Division of Endocrinology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA

    Wendy J. Brickman & Reema Habiby

Authors
  1. Alona Birjiniuk
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  2. Allison Goetsch Weisman
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  3. Christina Laternser
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  4. Joseph Camarda
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  7. Sheetal R. Patel
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by AB, SP AW and CL. The first draft of the manuscript was written by AB and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Sheetal R. Patel.

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The authors have no competing interests to declare that are relevant to the content of this article.

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The institutional review board at Ann & Robert H Lurie Children’s Hospital of Chicago approved this retrospective cohort study (IRB-2022–5214).

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Birjiniuk, A., Weisman, A.G., Laternser, C. et al. Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes. Pediatr Cardiol (2023). https://doi.org/10.1007/s00246-023-03159-0

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