Cited by 260Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesCongenital Heart Disease StudiesWilliams Syndrome Research

Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome

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Gotzsche, C O, Krag-Olsen, B, Nielsen, J, Sorensen, K E, Kristensen, B O·1994·Archives of Disease in Childhood

Abstract

The aim of the study was to establish the prevalence of cardiovascular malformations in females with Turner's syndrome and analyse possible associations with the various karyotypes. One hundred and seventy nine of 393 females who had Turner's syndrome diagnosed in Denmark were examined. Complete chromosome analysis was available in all cases. Clinical examination, electrocardiography, and echocardiography including Doppler were performed. The distribution of the various karyotypes was 45,X, 58%; mosaic monosomy X, 35%; and structural abnormalities of the X chromosome, 7%. In 46 (26%) of the females a total of 69 cardiovascular malformations were found; aortic valve abnormality (18%) and aortic coarctation (10%) being the most common. There was a significant difference in the prevalence of cardiovascular malformations between 45,X and mosaic monosomy X (38% v 11%), primarily due to a significant difference in the prevalence of aortic valve abnormalities and aortic coarctation. Pulmonary valve abnormalities were seen only in females with mosaic monosomy X but the prevalence was low (3%). No patient with structural abnormalities of the X chromosome had cardiovascular malformations.

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Crossref · 10.1136/adc.71.5.433

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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”

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Research works printed but not linked: 2

  1. Braunwald E. Valvular heart disease. In: Brunwald W, ed. Heart disease. A textbook ofcardiovascular medicine. 4th Ed. Philadelphia: WB Saunders, 1992: 1035.
  2. Bzkgaard-Laursen H. Congenital heart disease in Denmark. 1963-73. An epidemiological investigation. [Thesis.] Copenhagen: FADL's forlag, 1979.

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Authors
Gotzsche, C. O., Krag-Olsen, B., Nielsen, J., Sorensen, K. E., & Kristensen, B. O.
Affiliations
Aarhus University Hospital (DK)
Venue
Archives of Disease in Childhood
Publisher
BMJ
Published
1994-11-01
Volume
71
Issue
5
Pages
433-436
ISSN
  • 0003-9888 (ISSN-L)
  • 1468-2044
OpenAlex
W2071141301
Cited by
260
References
14
Citations by year
2026: 2 · 2025: 6 · 2024: 7 · 2023: 5 · 2022: 8 · 2021: 9 · 2020: 3 · 2019: 8 · 2018: 13 · 2017: 11 · 2016: 8 · 2015: 11 · 2014: 7 · 2013: 8 · 2012: 9
FWCI
1.47
Type
journal article
Language
en
Open access
Locations
  • Archives of Disease in Childhood (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
Hjerteforeningen
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 anomalies, karyotype, 45,X, coarctation of the aorta, prevalence, X chromosome structural abnormalities
MeSH terms
Adolescent, Adult, Aortic Coarctation, Aortic Valve, Aortic Valve Insufficiency, Aortic Valve Stenosis, Child, Child, Preschool, Denmark, Female, Heart Defects, Congenital, Humans, Infant, Karyotyping, Middle Aged, Monosomy, Turner Syndrome, X Chromosome, Prevalence

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