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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Long QT syndrome 8


Other Names for this Disease
  • Long QT syndrome with syndactyly
  • LQT8
  • Timothy syndrome
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Your Question

I have long QT syndrome, as does many of my family members. Some of these family members have been found to carry a mutation in a long QT syndrome gene, others with the condition do not. How can this be? How can I learn more about genetic testing for this syndrome? Is attention deficit disorder and/or celiac diseases related to long QT syndrome? Is genetic testing for celiac disease available?

Our Answer

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

I have long QT syndrome, as does many of my family members. Some of these family members have been found to carry a mutation in a long QT syndrome gene, others with the condition do not. How can this be?

We encourage you to speak with a genetics professional regarding your personal and family history of long QT syndrome. This type of professional will need to review your and your family members medical records and genetic testing results in order to help address this question. In general, genetic testing for long QT syndrome can be very complicated because there are so many different gene mutations that can cause this syndrome. When undergoing genetic testing it is important to know which genes are being tested, what method (or laboratory technique) is being used, what the detection rate of the test is, and what kind of results you might expect to receive. If you are considering genetic testing it is important to work with healthcare professionals who can accurately interpret and communicate test results, particularly making clear the significance of both a positive and negative test result.  Click here to learn more about genetic consultations. 

To find a genetics clinic, we recommend that you contact your primary doctor for a referral. The following online resources can also help you find a genetics professional in your community:
  
Last updated: 10/4/2013

How can I get tested for long QT syndrome?

Genetic testing for many forms of long QT syndrome is now available in a clinical setting. We recommend that you speak to a genetics professional to learn more about your testing options. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Patients with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 10/4/2013

Is there an association between attention deficit disorder and long QT syndrome?

There have been many studies conducted to determine the impact of stimulant medications for attention deficit disorder and attention deficit hyperactivity disorder on the QT interval as observed by an electrocardiogram (EKG). However, we were not able to identify information in the medical literature that suggests that there is a direct association between the incidence of attention deficit disorder and long QT syndrome in an individual. We recommend you speak to your health care provider about your concerns.

Last updated: 10/4/2013

Is there an association between celiac disease and long QT syndrome?

Common symptoms of celiac disease such as diarrhea and vomiting are known to temporarily result in long QT. However, we were not able to identify information in the medical literature that suggests that there is a direct association between celiac disease and long QT syndrome. We recommend you speak to your health care provider about your concerns.

Last updated: 10/4/2013

Is genetic testing available for celiac disease?

Genetic testing is available for celiac disease. However, genetic testing is often not required for a diagnosis of this condition.

You can find information about labs that offer genetic testing for celiac disease through the Genetic Testing Registry (GTR). The intended audience for the GTR is health care providers and researchers. Therefore, people with specific questions about genetic testing for celiac disease should speak with their health care provider or a genetics professional.

Last updated: 2/4/2014