Aortic arch disorders

The aortic arch, or arch of the aorta, is that curved portion of the aorta, which, in every representation of the human heart, is noted to carry the cardiac organ with it and to continue with the descending aorta.

Point of origin of three arteries fundamental for the oxygenation of the head and upper limbs, the aortic arch can present, in some individuals, with deformations or placed in anomalous positions.

These defects of shape or position derive from an error during embryonic development, therefore they are considered real congenital pathologies, that is present since birth.

Specifying that for anomalies of the aortic arch we also refer to defects that can affect the three branches of the arch itself, the most known and studied variants of the aortic arch are:

  • The double aortic arch
  • The right aortic arch with a mirror image branching
  • The right aortic arch with an abnormal branching
  • The left aortic arch with an abnormal branching
  • The cervical aortic arch

Being congenital defects (therefore inherent in DNA), the researchers tried to identify what could be the genetic explanation of these diseases and found that out of 100 people with a defect in the aortic arch, 20 present a genetic mutation on chromosome 22.

From an epidemiological point of view, aortic arch defects are quite rare pathologies. Moreover, according to some estimates, they would represent about 1% of the possible congenital heart abnormalities of human beings.

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