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Non-syndromic Supravalvar Aortic Stenosis/Elastin Arteriopathy Syndrome

What is Non-syndromic Supravalvar Aortic Stenosis/Elastin Arteriopathy syndrome?

Non-syndromic Supravalvar Aortic Stenosis/Elastin Arteriopathy syndrome is a disorder involving the connective tissue called elastin. Elastin Arteriopathy syndrome occurs when there is an abnormality in the elastin gene, which is on one of the chromosomes (chromosome 7). The abnormality in elastin results in the manifestations of Elastin Arteriopathy syndrome. Elastin is a structural protein in the cardiovascular system and soft tissues (skin and joints).

Unlike patients with Williams syndrome, which also includes abnormalities in elastin, the organ systems involved in patients with Elastin Arteriopathy syndrome usually only include:

  • Heart and blood vessels

The frequency of the occurrence of Elastin Arteriopathy syndrome is uncertain. It appears to occur in equal numbers in males and females, and also appears equally in all races and ethnic groups.

What causes Elastin Arteriopathy syndrome?

Elastin Arteriopathy syndrome is caused by an abnormality in the elastin gene (ELN), which is responsible for the production of the structural protein elastin. This gene is located on chromosome 7.

Elastin Arteriopathy syndrome may occur as a result of being passed along in families, or it may occur as a new mutation in the family (not inherited from a parent). Elastin Arteriopathy syndrome appears to be an autosomal dominant disorder. This means that each child of an affected parent will have a 50% chance of also being born with the disorder. Similarly, when a child is born with Elastin Arteriopathy syndrome to unaffected parents, the child will have a 50 percent risk of passing the gene on to the next generation.

Why is Elastin Arteriopathy syndrome a concern?

Children with Elastin Arteriopathy syndrome are at risk for serious problems involving the cardiovascular system, including the following:

  • Supravalvar aortic stenosis (SVAS). Narrowing of the aorta immediately after it exits the heart. This can cause problems with the heart’s ability to pump blood to the body and can lead to heart failure.
  • Peripheral pulmonary artery stenosis. Narrowing of the arteries to the lungs. This makes it difficult for the heart to send blood to the lungs to get oxygen, which makes the right pumping chamber of the heart have to work significantly harder.
  • Coarctation of the aorta. Narrowing of the aorta as it passes down to carry blood to the abdomen and lower limbs. This can cause problems with getting blood to the intestines, kidneys and legs. It also increases the work that the heart must do to push the blood through the narrowed area.
  • Systemic artery stenosis. Narrowing of the arteries of the body. This may affect arteries in the neck and head, arms and legs, as well as arteries to the kidneys and intestines.

What are the symptoms of Elastin Arteriopathy syndrome?

A deficiency of elastin in connective tissue creates the abnormalities that may be seen with Elastin Arteriopathy syndrome. The most common symptoms are listed below. Each child may experience symptoms differently. Symptoms may include:

Heart and blood vessels

  • Supravalvar aortic stenosis
  • Peripheral pulmonary artery stenosis
  • Coarctation of the aorta
  • Narrowing of arteries to kidneys
  • Hypertension

The symptoms of Elastin Arteriopathy syndrome may resemble other problems or medical conditions. Always consult your child's health care provider for a diagnosis.

How is Elastin Arteriopathy syndrome diagnosed?

In addition to a complete medical history and physical examination, other diagnostic tests for Elastin Arteriopathy syndrome may include the following:

  • Electrocardiogram (ECG or EKG). A test that records the electrical activity of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and detects heart muscle damage.
  • Echocardiography (echo). A procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves.
  • DNA studies. A blood sample sent to the genetics lab can analyze chromosome 7 to see if an abnormality is present that causes Elastin Arteriopathy syndrome.

Your child's health care provider will make the diagnosis of Elastin Arteriopathy syndrome based on medical history and other factors, as well as symptoms your child may exhibit and the results of genetic testing.

Treatment for Elastin Arteriopathy syndrome

Specific treatment for Elastin Arteriopathy syndrome will be determined by your child's health care provider based on:

  • Your child's age, overall health, and medical history
  • Extent of the disorder
  • Your child's tolerance for specific medications, procedures, or therapies
  • Expectations for the course of the disease
  • Your opinion or preference

At the present time, there is no cure for the disorder. Treatment is based on determining which organ systems are affected and managing the problems that arise. Recommendations for managing Elastin Arteriopathy syndrome may include the following:

  • An annual echocardiogram, or echo (to monitor the heart and aorta)
  • Annual evaluation by a cardiologist
  • Monitoring for abnormalities of the kidneys and high blood pressure

Genetic counseling is important for people who have Elastin Arteriopathy syndrome and have hopes to have a family. If one parent has the disorder, there is likely a 50% chance, with each pregnancy, for a child to also have Elastin Arteriopathy syndrome. Women with Elastin Arteriopathy syndrome should consult with their health care providers before pregnancy to determine if pregnancy is safe for them.

Long-term outlook for a child with Elastin Arteriopathy syndrome

Heart and blood vessel problems pose the largest threat to a person with Elastin Arteriopathy syndrome, which emphasizes the importance of regular evaluation by your child's health care provider. Consult your child's health care provider for more information regarding the specific outlook for your child.

The life expectancy of patients with Elastin Arteriopathy syndrome has not been thoroughly studied to allow for predictions of survival. However, with advances in the diagnosis, evaluation, and management of the organ abnormalities associated with Elastin Arteriopathy syndrome, the life expectancy is improving; certainly, there are patients with Elastin Arteriopathy syndrome who live long, productive lives.

Online Medical Reviewer:
Last Review Date: 01/01/0001
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