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Genetic and Rare Diseases Information Center (GARD)

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Ehlers-Danlos syndrome hypermobility type


Other Names for this Disease
  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3 (formerly)
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Your Question

My husband has Ehlers Danlos syndrome hypermobility type. He has severe syncope and very low blood pressure. What heart conditions are associated with Ehlers Danlos syndrome hypermobility type? Do people with Ehlers Danlos syndrome hypermobility type have a shortened life expectancy?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What heart symptoms are associated with Ehlers-Danlos syndrome hypermobility type?

Three heart problems associated with Ehlers-Danlos syndrome hypermobility type, include autonomic dysfunction, aortic root dilatation (enlargement of the aorta where it leaves the heart), and mitral valve prolapse.[1]

Autonomic dysfunction is experienced by one third (1 in 3) to half (1 in 2) of people with Ehlers-Danlos syndrome hypermobility type. Symptoms include:[1]

  • Atypical chest pain
  • Palpitations at rest or on exertion
  • Orthostatic intolerance (an inability to maintain normal blood pressure when you stand up)
  • Neurally mediated hypotension (a sudden drop in blood pressure after standing for long periods, leading to symptoms such as dizziness, nausea, and fainting)
  • Postural orthostatic tachycardia syndrome (fast heart beat that occurs when a person stands up)

Aortic root dilatation is usually mild and occurs in one fourth (1 in 4) to one third (1 in 3) of people with Ehlers-Danlos syndrome hypermobility type. Risk for sudden death and aortic dissection is not increased unless there is significant dilatation. Currently the long-term stability or progression and ultimate prognosis of aortic root dilatation in people with Ehlers-Danlos syndrome hypermobility type is not known.[1]
 
The association of mitral valve prolapse and Ehlers-Danlos syndrome hypermobility type is still not certain. However it is possible that mild mitral valve prolapse may explain some of the chest pain and palpitations experienced by people with this form of Ehlers-Danlos syndrome.[1]

Last updated: 7/21/2010

How might heart symptoms experienced by people with Ehlers-Danlos syndrome hypermobility type be treated?

In general, aortic root enlargement in people with Ehlers-Danlos syndrome hypermobility type may be treated with beta-blockade. Severe enlargement (> 4.5 - 5.0 cm) may require surgery. Severe enlargement is rare in people with EDS hypermobility type.

Often the mitral valve prolapse is too mild to meet diagnostic criteria, and may not require special monitoring or treatment.[2]

Autonomic dysfunction, specifically neurally mediated hypotension and postural orthostatic tachycardia is treated as usual, with sodium and water to expand the blood volume, beta-blockade, fludrocortisone, and/or stimulants.[2]

To learn more about your treatment options we recommend that you speak with your healthcare provider.

Further information on hypotension can be found at the following link from MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions.
http://www.nlm.nih.gov/medlineplus/ency/article/007278.htm

The following article provides further information on orthostatic intolerance:

Grubb BP, Karabin B. Postural tachycardia syndrome: Perspectives for patients. Circulation. 2008;118:e61-e62.

Information on fainting (syncope) due to autonomic causes (e.g., orthostatic intolerance) is available at the following link:
http://www.hrspatients.org/patients/signs_symptoms/fainting/non-cardiovascular_syncope.asp
Last updated: 7/21/2010

Do people with Ehlers Danlos syndrome hypermobility type have a shortened life expectancy?

No. People with Ehlers-Danlos syndrome hypermobility type are not thought to have a shortened life expectancy.[3]
Last updated: 7/21/2010

References