Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome

J Clin Endocrinol Metab. 2001 Sep;86(9):4166-70. doi: 10.1210/jcem.86.9.7818.


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.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blood Pressure / physiology
  • Body Weight
  • Cardiovascular Diseases / blood
  • Cardiovascular Diseases / epidemiology*
  • Chromosomes / genetics
  • Diabetes Mellitus / epidemiology
  • Female
  • Fibrinogen / metabolism
  • Gonadal Steroid Hormones / blood
  • Heart Defects, Congenital / blood
  • Heart Defects, Congenital / epidemiology*
  • Humans
  • Hypertension / blood
  • Hypertension / epidemiology*
  • Karyotyping
  • Life Style
  • Lipids / blood
  • Male
  • Middle Aged
  • Risk Factors
  • Turner Syndrome / blood
  • Turner Syndrome / epidemiology*
  • Turner Syndrome / genetics


  • Gonadal Steroid Hormones
  • Lipids
  • Fibrinogen