Broken HeartsFebruary 18, 2012
Turner Syndrome Awareness Fact: About 30% of girls with TS are born with a heart defect.
In addition to February being Turner Syndrome Awareness month, the month we often think of most associated with hearts, also contains congenital heart defects (CHD) awareness week - which was February 7-14.
CHDs are the #1 birth defect, affecting about 1% of all newborns. Over 40,000 babies are born with heart defects in the United States every year, according to the March of Dimes. Babies born with heart defects sometimes need to have surgery and sometimes the condition is just followed closely by a cardiologist.
The most common heart defects in Turner Syndrome are "a bicuspid aortic valve (the valve through which blood exits the heart into the aorta normally has three flaps, but in this case has only two) and coarctation (narrowing) of the aorta (the main artery leaving the heart). " Source
Even women and girls with Turner Syndrome born without a CHD, and who have no history of heart problems or hypertension, are at an increased risk for another heart issue, aortic root dilatation, an enlargement of the aorta. This can cause the aorta to separate or burst - known as aortic dissection.
Given the risk of aortic dissection, all women with TS should be alert for severe chest pain, as this is the main symptom. Even if the pain is shorted-lived it is recommended that they always go immediately to the ER and have an MRI done to rule out this condition.
Women with TS should follow Ritter Rules. According to the Thoracic Aortic Disease Coalition (TAD): "Ritter Rules are life-saving reminders to recognize, treat and prevent thoracic aortic dissection, a deadly tear in the large artery that carries blood away from the heart. Named for actor John Ritter, who died of a thoracic aortic dissection, Ritter Rules combine knowledge with action. Know the urgency, symptoms, who is most at risk and which imaging tests are required to diagnose this medical emergency."
To read the full Ritter rules visit the TAD
The Turner Syndrome Society recommends that, "All girls and women with TS, regardless of age, should have a thorough physical exam and an echocardiogram or MRI of the heart to look for heart conditions as soon as they are diagnosed with TS, during early adolescence (12-15 years old), and every three to five years during adulthood."
We are blessed that Lily does not have a CHD, but this does not mean we are out of the woods.
Yes, this sometimes feels scary to me, but knowing of the risks, following preventative care guidelines, and being aware of the signs/symptoms gives us knowledge going forward, and knowledge is power!