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Turner syndrome manifests itself differently in each female affected by the condition; therefore, no two individuals share the same features.
This abnormality is a relatively rare congenital heart disease in the general population.
The prevalence of this abnormality also is low (around 2.9%) in Turner syndrome.
In the remainder, it is usually associated with cardiovascular or kidney abnormalities, including coarctation of the aorta.
Two studies have suggested aortic dilatation in Turner syndrome, typically involving the root of the ascending aorta and occasionally extending through the aortic arch to the descending aorta, or at the site of previous coarctation of the aorta repair. Even if not every aortic root dilatation necessarily goes on to an aortic dissection (circumferential or transverse tear of the intima), complications such as dissection, aortic rupture resulting in death may occur.
Other congenital cardiovascular malformations, such as partial anomalous venous drainage and aortic valve stenosis or aortic regurgitation, are also more common in Turner syndrome than in the general population.
Hypoplastic left heart syndrome represents the most severe reduction in left-sided structures.
Estimates of the prevalence of this malformation in patients with Turner syndrome range from 6.9 to 12.5%.
A coarctation of the aorta in a female is suggestive of Turner syndrome and suggests the need for further tests, such as a karyotype.
Most of these significant conditions are treatable with surgery and medication.
Among cases that are detected by routine amniocentesis or chorionic villus sampling, one study found that the prevalence of Turner syndrome among tested pregnancies was 5.58 and 13.3 times higher, respectively, than among live neonates in a similar population.
Two studies found a rate of cardiovascular malformations of 30% The higher rate in the group of pure 45, X monosomy is primarily due to a difference in the rate of aortic valve abnormalities and coarctation of the aorta, the two most common cardiovascular malformations.