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Genetic and Rare Diseases Information Center (GARD)

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Transposition of the great arteries

Other Names for this Disease
  • Dextro-looped transposition of the great arteries
  • DTGA
  • TGA
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Your Question

I have had 2 boys who were born with TGA. I am trying to find out if there is any information about other families in which this has happened more than once. We have been for genetic testing but are still waiting for the results. Also, do you know where I could find studies on TGA? I would really like to read up more and learn all I can.

Our Answer

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

What causes transposition of the great arteries (TGA)?

The exact cause of TGA remains unknown. Some possible associated risk factors that have been proposed include gestational diabetes mellitus, maternal exposure to rodenticides and herbicides, and maternal use of anti-epileptic drugs. Changes (mutations) in specific genes including the GDF1, CFC1 and MED13L (also called THRAP2) genes have been implicated in only a small minority of TGA cases.[1][2]
Last updated: 6/27/2011

Can transposition of the great arteries be familial?

In most cases of TGA, only one family member is affected. The findings of some studies have suggested that TGA is a sporadic defect, while other studies have found that the risk for TGA to occur in a sibling of an affected individual is in the range of  0.2% - 1.4%.[3] The authors in one particular study published in The Lancet found that TGA recurred in siblings, in first cousins, and in an uncle and nephew.[3] Another study from 2001 in the journal Circulation also showed that TGA is not always sporadic in families, and the authors stated that their findings support monogenic (single gene) or oligogenic (multiple genes) inheritance of TGA in certain families. They also observed the occurrence of complete TGA and congenitally corrected TGA among first-degree relatives in several different families, suggesting an underlying causative link between these 2 malformations.[4]
Last updated: 6/27/2011

Where can I find research studies about transposition of the great arteries?

You can find relevant articles on transposition of the great arteries (TGA) through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using "transposition of the great arteries" as your search term should help you locate articles. Use the Limits and/or Advanced Search features to narrow your search results. To view a sample of a search, click here.

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

The U.S. National Institutes of Health, through the National Library of Medicine, developed to provide patients, family members, and members of the public with current information on clinical research studies. To find trials involving individuals with transposition of the great arteries, click here. Check this site often for regular updates.
Last updated: 6/27/2011