What are the findings on a 2-dimensional (2D) echocardiogram in a patient with Turner syndrome?

From the Guidelines

Two-dimensional echocardiography (2D echo) is essential for patients with Turner syndrome and should be performed at diagnosis and periodically throughout life to evaluate for bicuspid aortic valve, aortic root and ascending aortic dilation, aortic coarctation, and other congenital heart defects, as recommended by the 2022 ACC/AHA guideline for the diagnosis and management of aortic disease 1. The findings on a 2D echocardiogram in a patient with Turner syndrome may include:

• Bicuspid aortic valve (present in 30-50% of patients)
• Coarctation of the aorta (10-20%)
• Aortic root dilation
• Other congenital heart defects These patients also have an increased risk of aortic dissection, estimated to be 100 times higher than the general population, and the risk factors for aortic dissection include aortic dilation, hypertension, bicuspid aortic valve, and aortic coarctation 1. The 2022 ACC/AHA guideline recommends the use of the aortic size index (ASI) to define the degree of aortic dilation and assess the risk of aortic dissection in patients with Turner syndrome who are ≥15 years old 1. The ASI is calculated by dividing the maximal aortic diameter by the body surface area, and an ASI >2.3 cm/m2 is associated with an increased risk of aortic dissection, requiring more frequent surveillance imaging, at least annually 1. For patients transitioning to adulthood, cardiac MRI is often recommended in addition to echocardiography for more detailed evaluation of the aorta, and this vigilant cardiac monitoring is crucial because cardiovascular complications are the leading cause of excess mortality in Turner syndrome, and early detection allows for timely intervention to prevent serious outcomes 1.

From the Research

Findings on 2D Echocardiogram in Turner Syndrome

• A 2D echocardiogram can be used to evaluate the aortic root and proximal ascending aorta in patients with Turner syndrome 2
• The feasibility of aortic imaging by 2D echocardiogram is lower when measuring distal aorta, with a feasibility of 88% at the descending thoracic aorta and 91.5% at the abdominal aorta level 2
• 2D echocardiogram can overestimate aortic arch diameters in approximately 70% of cases, whereas MRI measurements are usually 1 mm higher compared to the corresponding 2D echocardiogram values at the remaining aortic levels 2
• Concordance between 2D echocardiogram and MRI is very good at the aortic root and ascending thoracic aorta levels, making 2D echocardiogram a useful method to screen for aortic disease and follow proximal aortic dimensions over time in Turner syndrome patients 2
• Bicuspid aortic valve is a common finding in Turner syndrome, with a prevalence of 34% to 39.2% in different studies 3, 4, 5
• Aortic coarctation is also a common finding in Turner syndrome, with a prevalence of 12.5% to 15.7% in different studies 5, 4
• Elongation of the transverse aortic arch is associated with coarctation of the aorta, bicuspid aortic valve, and aortic sinus dilatation, which may contribute to increased risk of aortic dissection 4