Cardiovascular Disease in Turner Syndrome
Pankaj Madan, MD, MS, Director, Center for Adult Congenital Heart Disease
Newark Beth Israel Medical Center, Suite E3, 201 Lyons Avenue, Newark, NJ 07112
How common is heart disease in Turner syndrome?
Heart disease is very common in Turner syndrome. Various studies using different imaging techniques have demonstrated that 25-50% of patients with TS have some form of congenital cardiovascular defect.
How do I know that I have (or don’t have) heart disease?
Heart disease in TS can often be silent for a long time. It may present in later life as shortness of breath, palpitations, exercise intolerance or as a catastrophic event such as aortic dissection. Therefore, all newly diagnosed individuals with TS should be seen by a cardiologist who is familiar with spectrum of heart disease that occurs in TS. Usually echocardiogram is performed as a screening investigation. However, it is a user dependent investigation. Images may be suboptimal in older individuals. Several of the cardiovascular defects present in TS may also not be visualized well on echo. Therefore, cardiac MRI is recommended whenever the affected patient is able to cooperate. However, such advanced imaging should be performed at tertiary care centers where the physicians have experience in performing and interpreting studies of individuals afflicted with congenital heart disease.
What are the common forms of heart disease that can occur in Turner syndrome?
Most of the heart disease in TS is congenital. Bicuspid aortic valve (two cusps instead of three), coarctation (narrowing) of aorta, aortic arch anomalies constitute majority of the congenital heart defects. Other defects may be anomalous pulmonary venous return, persistent left superior vena cava. Atrial and ventricular septal defects are less common.
I was not born with any heart defects from birth. Am I still at risk for heart disease as compared to normal peers?
Unfortunately, TS affected individuals are at increased risk of developing diabetes and hypertension, which predisposes them to premature coronary artery disease. Therefore, it is essential to aggressively control risk factors to ensure long-term survival free of cardiovascular problems.
What are the cardiovascular risks if I get pregnant?
Recent advances in infertility treatment using egg donation have enabled the TS individuals to become pregnant. However, pregnancy does predispose the affected individuals to excessive cardiovascular risks. One of the most important and life-threatening complications is aortic dissection, which has been reported in 2-4% of the pregnancies. This complication is associated with 60-80% fatality. Other problems that may occur are pregnancy induced hypertension, pre-eclampsia, prematurity of the baby. Therefore, women should get evaluated and receive counseling before pregnancy by an adult congenital cardiologist who is aware of the complications that can arise in TS individuals.
Is there any limitation on physical activity from a cardiac standpoint?
Specific recommendations about physical activity depend upon the type of heart defect detected in TS individuals. In most of the patients, there is no limitation for aerobic exercises. In individuals who are noted to be having bicuspid aortic valve, aortopathy and/or coarctation, there may be restrictions on anerobic exercises such as weight lifting or exercising till exhaustion.
What kind of cardiology care is recommended for adults with Turner syndrome?
The intensity and the frequency of cardiology care depends upon the presence or absence of any heart defect and the type of cardiac defect detected. Several of the heart defects that are frequent in women with TS require specialized follow up in adult congenital cardiology clinics according to the American College of cardiology and American Heart Association guidelines. Since TS also impacts the management of the cardiac condition, physicians need to be aware of the implications of TS in cardiac conditions detected. Women transitioning from adolescence to adulthood or who are contemplating pregnancy should also be seen in such clinics.
In the absence of bicuspid aortic valve, or other significant disease at the initial screening, TTE or CMR should be performed every 10 years in adults or prior to anticipated pregnancy. 4.9 2017 guidelines