Supravalvular aortic stenosis

Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve. It is often associated with other cardiovascular anomalies and is one of the characteristic findings of Williams syndrome. The diagnosis can be made by echocardiography or MRI.

Genetics

Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23.[1] Fluorescent in situ hybridisation techniques have revealed that 96% of patients with Williams syndrome, where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene.[2] Further studies have shown that patients with less extensive deletions featuring the Elastin gene also tend to develop supravalvular aortic stenosis [1]

References

  1. 1 2 Tassabehji, May, and Zsolt Urban. "Congenital Heart Disease." Congenital Heart Disease. Humana Press, 2006. 129-156.
  2. ↑ Lowery, Mary C., et al. "Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients." American journal of human genetics 57.1 (1995): 49.


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