Evaluation and Management of Cardiovascular Risks in Turner Syndrome

Initial Diagnostic Evaluation

The American Heart Association recommends that patients with Turner syndrome undergo transthoracic echocardiography (TTE) and cardiac MRI at diagnosis to evaluate for bicuspid aortic valve (BAV), aortic root/ascending aortic dilation, aortic coarctation, and other congenital heart defects 2, 3, 4
For patients ≥15 years old, the aortic size index (ASI) should be calculated by dividing the maximal aortic diameter (cm) by body surface area (m²) to assess aortic dissection risk 2, 3
In children <15 years old, a Turner syndrome-specific z-score should be used to assess for aortic dilation 2, 3

For patients without risk factors for aortic dissection, the American College of Cardiology recommends TTE or MRI every 5 years for children and every 10 years for adults 2, 3, 4
For patients with ASI >2.3 cm/m², at least annual surveillance imaging of the aorta is recommended 1, 2, 3
For patients with risk factors for aortic dissection (BAV, aortic coarctation, hypertension), surveillance frequency depends on aortic diameter, ASI, and aortic growth rate 2, 3, 4

For patients ≥15 years old with ASI ≥2.5 cm/m² plus risk factors for aortic dissection, surgical intervention to replace the aortic root, ascending aorta, or both is reasonable 2, 3, 4

Underestimating the risk of aortic dissection in patients with Turner syndrome, especially those with small body size 2, 3