Management Approach for Mosaic Turner Syndrome

Cardiovascular Evaluation and Management

The American College of Cardiology recommends that all patients with mosaic Turner syndrome undergo baseline cardiovascular imaging with 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 1, 2, 3
For patients ≥15 years old, the aortic size index (ASI) should be calculated to define the degree of aortic dilation and assess the risk of aortic dissection, with an ASI >2.3 cm/m² indicating increased risk 1, 3
Surveillance imaging recommendations are based on risk stratification, with patients without risk factors for aortic dissection requiring TTE or MRI every 5 years for children and every 10 years for adults, and patients with ASI >2.3 cm/m² requiring at least annual surveillance imaging 1, 4
Surgical intervention is recommended for patients ≥15 years old with ASI ≥2.5 cm/m² plus risk factors for aortic dissection, with surgical replacement of the aortic root, ascending aorta, or both being reasonable 1, 4
Hypertension should be treated aggressively according to general guidelines, with beta-blockers and/or ARBs considered to inhibit aortic growth 2

A thorough cardiovascular evaluation is mandatory before attempting pregnancy, with pregnancy in Turner syndrome carrying substantial risks and requiring extensive pre-conception counseling and monitoring 2, 4
Pregnancy is associated with a higher risk of aortic dissection, especially with pre-existing cardiovascular abnormalities 2, 4

Screening for hypothyroidism is essential, with the American Heart Association recommending regular screening 5

Physical activity should be encouraged but modified based on cardiovascular status and aortic dimensions, with the American College of Cardiology recommending individualized exercise plans 4
Genetic counseling should be offered to all patients, with the American Heart Association recommending routine genetic counseling 5

Underestimating the risk of aortic dissection, especially in patients with small body size, is a common pitfall, with the American College of Cardiology recommending careful assessment of aortic dimensions 3
Failure to use Turner-specific normative data or indexed measurements when assessing aortic dimensions is a common error, with the American College of Cardiology recommending use of Turner-specific norms 2, 3
Inadequate screening for associated conditions and comorbidities that may impact cardiovascular health and overall well-being is a common pitfall, with the American College of Cardiology recommending regular screening for conditions such as diabetes and osteoporosis 5, 6