Heart Treatments for Turner Syndrome

Approximately half of females with Turner syndrome, a genetic condition affecting the X chromosomes, are born with heart problems. Those who aren’t born with heart conditions remain at higher risk for developing heart disease throughout their lives. At the Heart Institute, your child receives care from doctors who have experience treating heart defects commonly associated with Turner syndrome.

Heart Defects Associated With Turner Syndrome

Congenital (from birth) heart defects related to Turner syndrome typically affect the left side of the heart and aorta. The aorta is the largest artery—it carries oxygenated blood from the heart to the rest of the body.

Common heart conditions in children with Turner syndrome include:

  • Bicuspid aortic valve: The valve controlling blood flow from the heart into the aorta only has two flaps, instead of the usual three. This is the most common heart defect among people with Turner syndrome.
  • Coarctation (narrowing) of the aorta: The artery carrying blood from the heart to the body is too narrow. This narrowing causes the heart to pump harder.
  • Aortic dilatation (widening): When the aorta is wider than usual, it is more likely to rupture (aortic dissection). Children with Turner syndrome need regular cardiac imaging to watch for this serious condition.
  • Aortic stenosis: The valve from the heart into the aorta is too narrow, which restricts blood flow into the aorta. Aortic stenosis can also increase pressure in the left side of the heart.
  • Anomalous pulmonary venous return (APVR): The veins carrying oxygen-rich blood from the lungs connect to the wrong part of the heart. Usually, oxygenated blood enters the left side of the heart, which can pump it out to the rest of the body. In children with APVR, the oxygenated blood goes to the right side of the heart instead. It mixes with blood that hasn’t yet received oxygen from the lungs, making it harder for the organs to get enough oxygen.
  • Other left heart anomalies: Less often, children with Turner syndrome may experience hypoplastic left heart syndrome or other types of underdeveloped left heart.

Monitoring Turner Syndrome Heart Defects

If your child has Turner syndrome, it is important to go to a cardiologist to look for any potential heart problems. The doctor will perform an echocardiogram to check your child’s heart structure and function. If the echocardiogram doesn’t fully show your child’s aorta, the doctor may request a cardiac MRI.

All children with Turner syndrome need ongoing cardiac monitoring:

  • Children with current or past heart problems need annual blood pressure monitoring, echocardiograms and electrocardiograms, along with cardiac MRIs every three to five years.
  • Children with aortic dilatation need follow-up appointments every six months.
  • Children with no history of heart problems need annual blood pressure monitoring, along with an echocardiogram and/or MRI every five years and before any pregnancies.

Treating Turner Syndrome Heart Defects

Some heart defects may not require immediate treatment. When necessary, treatments include lifestyle changes, medication and surgery:

  • Lifestyle changes: Cardiac problems are an ongoing concern for people with Turner syndrome. Addressing any treatable risk factors, such as high cholesterol or obesity, can help reduce the risk for developing heart complications. Getting regular exercise and eating a healthy diet are important parts of a healthy lifestyle.
  • Cholesterol medication: When lifestyle changes are not enough, doctors may prescribe medication to lower cholesterol.
  • Blood pressure medication: High blood pressure is another common heart condition among people with Turner syndrome. High blood pressure can also increase the risk of complications from heart defects like aortic dilatation. It is important to monitor and treat any blood pressure issues. Doctors may prescribe beta blockers to lower blood pressure.
  • Heart surgery: Many heart problems associated with Turner syndrome eventually require heart surgery. At CHLA, our surgeons have expertise in procedures correcting heart defects associated with TS. These include aortic root replacements, valve repairs and surgical treatment of hypoplastic left heart syndrome.