Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome
Open accessAbstract
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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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 [389]
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- Authors
- Gotzsche, C. O., Krag-Olsen, B., Nielsen, J., Sorensen, K. E., & Kristensen, B. O.
- Affiliations
- Aarhus University Hospital (DK)
- ORCID
- Nielsen, J
- 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
- PMC
- PMC1030059
- 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
- bronze
- doi.org
- 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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