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Cardiac Malformations and Hypertension, But Not Metabolic Risk Factors, Are Common in Turner Syndrome
Abstract
Turner syndrome (TS) is caused by an X chromosome aberration and is characterized by endogenous estrogen deficiency secondary to ovarian dysgenesis and short stature. Our aim was to study the prevalence of cardiovascular malformations and cardiovascular risk factors (blood pressure, blood lipids and glucose, coagulation factors, social factors, smoking habits) in adults with Turner syndrome in comparison with a female random population sample. One hundred women with Turner syndrome (aged 16-71 yr) underwent physical examination, echocardiography, electrocardiography, and blood sampling. Seventy-one of them were matched for age [mean age, 33.7 +/- 11 yr (range, 25-64)] with a random population sample (n = 213) of women [mean age, 34.8 +/- 9 yr (range, 25-64)] from the World Health Organization's Monitoring of Trends and Determinants in Cardiovascular Diseases Project, Göteborg. Six percent of Turner syndrome women were smokers compared with 25% in the population (P < 0.001). Turner syndrome women were relatively heavier and had a lower degree of leisure time physical activity than controls (P < 0.001). Diabetes and treatment for hypertension were present in 3 and 22% among Turner syndrome women vs. 2% (not significant) and 3% (P < 0.001) in controls, respectively. Cardiovascular malformations were found among 17% in Turner syndrome women (45,X dominated) vs. 0.5% in controls (P < 0.001). Systolic but not diastolic blood pressure was higher in Turner syndrome women. No differences were seen in serum total cholesterol, high- or low-density lipoprotein cholesterol, triglycerides, lipoprotein (a), or plasma fibrinogen concentrations between patients and controls. Diabetes or hypertension was not related to karyotype. In conclusion, congenital cardiovascular malformations were frequent. Most cardiovascular risk factors (glucose and lipid levels, fibrinogen, smoking habits) were not increased, but hypertension was more common in Turner syndrome women.
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“While increased levels of procoagulant factors and reduced protein C and S were reported in some individuals with TS,129,474 most studies have reported normal levels of clotting factors, fibrinolytic factors, and clotting times.455”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [455]
In the citing paper
“The prevalence of hypertension is as high as 20%-40% in children441,453 and up to 60% in adults with TS.357,452,454-456”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [455]
In the citing paper
“There does not seem to be a specific dyslipidemia associated with TS.331,455”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [455]
In the citing paper
“The available literature shows that girls and women with TS do not meet current general recommendations for physical activity,357,455,496-498 which is concerning because less physical activity has been associated with excess weight gain and hypertension in adults with TS.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [455]
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Cardiac surgery and hypertension: a dangerous association that must be well known
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Cardiovascular Health in Turner Syndrome
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Genetics, Epidemiology, and Counseling
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Metadata
- Authors
- Landin-Wilhelmsen, K., Bryman, I., & Wilhelmsen, L.
- Affiliations
- Sahlgrenska University Hospital (SE)
- ORCID
- Bryman, Inger
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2001-09
- Volume
- 86
- Issue
- 9
- Pages
- 4166-4170
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2037242308
- Cited by
- 113
- References
- 31
- Citations by year
- 2025: 1 · 2024: 4 · 2023: 4 · 2022: 4 · 2021: 4 · 2020: 2 · 2019: 6 · 2018: 7 · 2017: 2 · 2016: 1 · 2015: 3 · 2014: 1 · 2013: 7 · 2012: 3
- FWCI
- 2.73
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (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 › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- Turner syndrome, congenital heart disease, hypertension, cardiovascular risk factors, smoking, diabetes mellitus, dyslipidemia, fibrinogen, karyotype, 45,X, adult women, cardiovascular anomalies
- MeSH terms
- Adult, Blood Pressure, Body Weight, Cardiovascular Diseases, Chromosomes, Diabetes Mellitus, Female, Fibrinogen, Heart Defects, Congenital, Humans, Hypertension, Karyotyping, Life Style, Lipids, Male, Middle Aged, Risk Factors, Gonadal Steroid Hormones, Turner Syndrome
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