Physical Health
Heart and Blood Vessels
Cardiovascular abnormalities are one of the most common complications in girls and women with Turner Syndrome (TS)
Congenital heart disease occurs in up to 50% of individuals with TS and is more common in those with a 45,X karyotype.
Left-sided heart defects are most common, with frequencies of
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15-30% for bicuspid aortic valve- abnormally-shaped with only two leaflets
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7-18% for coarctation (narrowing) of the aorta.
Other abnormalities frequently seen with TS are
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partial anomalous pulmonary venous connection
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left superior vena cava
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elongated transverse arch
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and dilatation (enlargement) of the brachiocephalic arteries.
Less frequent conditions are
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hypoplastic left heart syndrome
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mitral valve anomalies
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heart displacement to the right
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ventricular or atrioventricular septal defect
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pulmonary valve and other coronary artery abnormalities.
The Clinical Practice Care Guidelines for the Care of Women and Girls with Turner syndrome recommendations to physicians:
It is recommended that an infant or child be examined with transthoracic echocardiography (TTE) at the time of diagnosis, even if the fetal echocardiogram or postnatal cardiac examination was normal.
It is recommended that, in the absence of a bicuspid aortic valve or other significant disease at the initial screening, TTE or CMR surveillance studies should be performed every 5 years in children, every 10 years in adults, or prior to anticipated pregnancy to evaluate the aorta based on published guidelines.
It is essential to diagnose and treat underlying causes of hypertension, such as kidney anomalies or narrowing of the aorta, which may also lead to higher blood pressure.
Turner Topic on the Heart and Turner Syndrome
For convenience, the Turner Topic offers a one-sheet overview of the Heart and TS based on the most requested information, including:
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Bicuspid aortic valve
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Hypoplastic left heart syndrome
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Coarctation of the aorta
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Ascending aorta dilatation and dissection
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Hypertension
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Atherosclerosis
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Pregnancy and TS
"The Healthy Heart Project saved my life. That's where they found my bicuspid aortic valve and my dilated aorta. I was closely monitored and finally had my surgery in 2011."
Cindy Kenward
