Turner syndrome is a genetic condition that can cause serious heart problems. It affects only girls and women because it is caused by a missing or incomplete X chromosome (normally girls have two X chromosomes; boys have one X and one Y). The condition is rare, only affecting about 1 in 2,500 female births worldwide. There are about 800 new cases diagnosed in the U.S. each year.
Turner syndrome can be diagnosed in utero or in infancy, but if signs and symptoms are subtle, it may not be detected until later in life.
Girls and women who have Turner syndrome have an increased risk of certain cardiovascular conditions. Sometimes even slight abnormalities in the heart’s structure can lead to serious complications.
Problems with the wall of the aorta, the main blood vessel leading out of the heart, heighten the risk for a tear in the inner layer of the aorta, called aortic dissection. About 30 percent of people with Turner syndrome have a bicuspid aortic valve, which means the aortic valve has only two leaflets, or cusps, instead of the normal three. Up to 10 percent of children with Turner syndrome have a severe constriction of the aorta (also known as coarctation of the aorta). Once diagnosed, this can be corrected surgically or with a catheter-based procedure. Another heart condition known to occur in patients with Turner syndrome is partial anomalous pulmonary venous return. Many girls and women with Turner syndrome have high blood pressure, which can increase the risk for aortic dissection. Also, the electrocardiogram can have abnormalities such as a prolonged QT interval.
The Turner Syndrome Consensus Study Group recommends cardiology evaluation for all patients with Turner syndrome, with follow-up for all patients even if the intial evaluation is normal. They also recommend a cardiac MRI for all patients.
There have been many advancements in the treatment of Turner syndrome, including hormone therapy that may help the child grow more than they would otherwise. Estrogen replacement therapy may be used for girls reaching puberty age to help normal sexual maturity, including breast growth.
To learn more, go to the Turner Syndrome Society website.