Cardiovascular considerations in management of patients with Turner syndrome
Maria Stefil1, Agnieszka Kotalczyk2, Joanne C Blair3
1Liverpool Centre for Cardiovascular Science, University of Liverpool, Liverpool United Kingdom; Liverpool Heart and Chest Hospital NHS Foundation Trust, Liverpool, United Kingdom; Department of Endocrinology, Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom.
Insights
Turner syndrome (TS) significantly increases cardiovascular disease risk in females. Early assessment and management are crucial for improving outcomes in this high-risk population.
Area of Science:
- Cardiology
- Genetics
- Endocrinology
Background:
- Turner syndrome (TS) is a chromosomal disorder affecting females, associated with a high prevalence of cardiovascular disease.
- Cardiovascular complications represent a major cause of mortality and morbidity in TS patients.
- Congenital heart abnormalities, including bicuspid aortic valve and coarctation of the aorta, affect approximately 50% of TS patients.
Purpose of the Study:
- To provide a comprehensive overview of cardiovascular assessment in Turner syndrome.
- To outline current management strategies for cardiovascular conditions in TS.
- To discuss follow-up protocols for females with Turner syndrome.
Main Methods:
- Literature review of cardiovascular manifestations in Turner syndrome.
- Analysis of existing guidelines for cardiac assessment and management.
- Synthesis of data on long-term cardiovascular outcomes in TS.
Main Results:
- Females with TS exhibit increased risks of both congenital and acquired cardiovascular diseases.
- Systemic hypertension is frequently observed and exacerbates cardiac dysfunction and aortopathy.
- Generalised arteriopathy is a common finding in this population.
Conclusions:
- Cardiovascular disease poses a significant threat to the health and longevity of females with Turner syndrome.
- Systematic cardiovascular evaluation, tailored management, and consistent follow-up are essential for mitigating risks.
- Proactive cardiovascular care can improve the quality of life and prognosis for individuals with TS.
Abstract:
Turner syndrome (TS) is a chromosomal disorder that affects 25-50 per 100,000 live born females. Patients with TS face a heavy burden of cardiovascular disease (congenital and acquired) with an increased risk of mortality and morbidity compared to the general population. Cardiovascular diseases are a major cause of death in females with TS. Approximately 50% of TS patients have a congenital heart abnormality, with a high incidence of bicuspid aortic valve, coarctation of the aorta and generalised arteriopathy. Frequently, females with TS have systemic hypertension, which is also a risk factor for progressive cardiac dysfunction and aortopathy. This paper aims to provide an overview of the cardiovascular assessment, management and follow up strategies in this high-risk population.
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