Related Experiment Video

Updated: Jul 6, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

Congenital cardiovascular disease in Turner syndrome

Carolyn A Bondy1

  • 1National Institute of Child Health and Human Development, National Institutes of Health-Developmental Endocrinology Branch, Bethesda, MD 20892, USA. bondyc@mail.nih.gov

Congenital Heart Disease
|April 1, 2008
PubMed

Insights

Turner syndrome (TS), or monosomy X, is a genetic condition affecting females. Cardiovascular disease is a major concern, necessitating improved adult cardiological follow-up and risk factor identification for aortic dissection.

Area of Science:

  • Genetics and Cardiovascular Medicine

Background:

  • Turner syndrome (monosomy X) affects 1 in 2000 live born females.
  • Short stature is a consistent feature, but congenital cardiovascular disease (CVD) affects 50% and is a leading cause of premature mortality.
  • Adult cardiological follow-up for TS is insufficient, despite CVD being a critical aspect.

Purpose of the Study:

  • To review the spectrum of cardiovascular defects in Turner syndrome.
  • To identify risk factors for aortic dissection and rupture in TS patients.
  • To discuss genetic pathways in Turner cardiovascular disease and review current guidelines.

Main Methods:

  • Literature review focusing on cardiovascular aspects of Turner syndrome.
  • Analysis of risk factors for aortic dissection and rupture.
  • Discussion of genetic pathways and current diagnostic/treatment guidelines.

Main Results:

  • Turner syndrome presents a wide range of cardiovascular defects.
  • Specific risk factors for aortic dissection/rupture are highlighted.
  • X-chromosome genetic pathways and premature coronary artery disease are implicated.

Conclusions:

  • Improved adult cardiological care and monitoring are crucial for Turner syndrome patients.
  • Understanding genetic factors and risk stratification can mitigate cardiovascular mortality.
  • Current guidelines for TS diagnosis and treatment require review and implementation.

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