What are the key considerations for monitoring and management of Turner syndrome in adults?

Key Considerations for Monitoring and Management of Turner Syndrome in Adults

Regular cardiovascular surveillance is essential for all adults with Turner syndrome, with specific imaging protocols and surgical interventions determined by aortic size index (ASI) and presence of risk factors for aortic dissection. 1

Cardiovascular Monitoring

Initial Evaluation

• All women with Turner syndrome should undergo comprehensive cardiovascular evaluation at diagnosis with:
  • Transthoracic echocardiography (TTE)
  • Cardiac MRI to evaluate for:
    • Bicuspid aortic valve (present in 15-30%)
    • Aortic coarctation (present in 7-18%)
    • Ascending aortic dilation (present in 33%)
    • Other congenital heart defects 1

Aortic Monitoring

• Use Aortic Size Index (ASI) for patients ≥15 years old:
  • ASI = aortic diameter (cm) ÷ body surface area (m²)
  • ASI >2.0 cm/m² is abnormal
  • ASI ≥2.5 cm/m² indicates significantly increased risk of aortic dissection 1

Surveillance Frequency

• For patients WITHOUT risk factors for aortic dissection:

  • TTE or MRI every 10 years
  • Always perform imaging before planning pregnancy 1

• For patients with ASI >2.3 cm/m²:

  • At least annual imaging of the aorta 1

• For patients with risk factors for aortic dissection:

  • Imaging frequency based on aortic diameter, ASI, and growth rate
  • For stable ASI ≤2.3 cm/m²: TTE or MRI every 2-3 years
  • For ASI >2.3 cm/m²: At least annual imaging 1

Surgical Management

• Surgical intervention is reasonable for patients ≥15 years with:

  • ASI ≥2.5 cm/m² PLUS risk factors for aortic dissection 1
  • Consider absolute aortic diameter >4.0 cm in short-statured but obese patients 1

• Surgical intervention may be considered in patients without risk factors but with ASI ≥2.5 cm/m² 1

Risk Factors for Aortic Dissection

• Bicuspid aortic valve
• Aortic coarctation
• Hypertension
• Aortic dilation 1

Other Important Health Considerations

Hypertension Management

• Hypertension is more common in Turner syndrome than in the general population 2
• Aggressive blood pressure control is essential to reduce risk of aortic complications
• Regular blood pressure monitoring and appropriate antihypertensive therapy

Metabolic and Endocrine Monitoring

• Screen for:
  • Type 1 and Type 2 diabetes mellitus
  • Osteoporosis
  • Thyroid disorders
  • Autoimmune conditions 3

Reproductive Health

• Most women require hormone replacement therapy (HRT) due to premature ovarian failure
• Pregnancy carries increased risk of aortic dissection, especially with pre-existing aortic valve or aortic abnormalities 1
• Mandatory cardiovascular imaging before attempting pregnancy 1

Clinical Pitfalls and Caveats

1. Underestimation of risk: Due to short stature, using absolute aortic diameters alone may underestimate aortic dissection risk; always use ASI for accurate risk assessment 1

2. Imaging challenges: Mid-ascending aorta involvement may not be reliably seen on TTE; MRI or CT is often necessary 1

3. Measurement standardization: Measurements across different imaging modalities (MRI, CT) are not standardized; side-by-side comparisons are more reliable for detecting changes over time 1

4. Pregnancy risk: Women with Turner syndrome have significantly increased risk of aortic dissection during pregnancy; thorough cardiovascular evaluation is mandatory before attempting pregnancy 1

5. Diagnostic delay: Despite characteristic phenotype, diagnostic delay is common with average age at diagnosis around 15 years; early diagnosis enables timely cardiovascular monitoring 3