About 50% of girls with TS are born with a problem affecting the structure of the heart. The most common problems identified by echocardiography (an ultrasound of the heart) include:

 

• Bicuspid aortic valve - The valve through which blood exits the heart into the aorta normally has three flaps, or "cusps," but in this case has only two.

• Coarctation, or narrowing, of the aorta-  the main artery leaving the heart.

• Aortic dilation (enlargement of the aorta where it leaves the heart),  is another heart problem that can commonly occur.

 

 If any problems are found, the child should be followed by a pediatric cardiologist (children’s heart specialist) for ongoing care. In some cases, the problem may need to be corrected with surgery, and in others, the cardiologist may just monitor her heart.

 

 

These conditions may not be diagnosed at birth or in early childhood, therefore all girls and women with TS, regardless of age, should have a thorough physical exam, an echocardiogram, or MRI of the heart as soon as they are diagnosed.  A second evaluation should occur during early adolescence (12-15 years old), and every three to five years throughout adulthood. If problems are found, the child should be followed by a pediatric cardiologist (heart specialist for children) for ongoing care. In some cases, the problem may need to be corrected with an operation. In others, the cardiologist may continue to monitor your daughter.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Other Concerns

 

High blood pressure (hypertension) is another common condition in Turner syndrome. Sometimes it results from a heart or kidney problem, but sometimes there is no known cause. High blood pressure may not occur until later in childhood or adulthood and may worsen with obesity and age. Both girls and women with TS should have their blood pressure checked regularly and follow their doctor’s advice, which will include diet, exercise and possibly a medication.

 

Aortic dissection - Can occur in women girls or women who are not known to have a heart problem or high blood pressure. Although uncommon, it is mentioned because it can have a devastating result – the layers of the weak walls of this major artery can separate from each other (dissection) or burst (rupture). This can cause internal bleeding, shock and even death if not diagnosed and treated quickly. All girls and women with TS – and their families – must be aware that severe or persistent chest pain can be a symptom. If there is a concern, an imaging study (echocardiogram, MRI, or CT scan) must be done to rule out aortic dissection. This condition is rare, and there is no need to live in fear of its occurrence – just a need to be aware of it so it can be diagnosed accurately.