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Don’t fight Transposition of the great arteries alone.
Find your community on the free RareGuru App.Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be circulated between the lungs and the heart, rather than to the body. Symptoms are apparent at birth and include great difficulty breathing and severe cyanosis (a bluish discoloration of the skin). The exact cause of TGA in most cases is unknown. Surgery is done to correct the abnormality during the first few days of life.
Source: GARD Last updated on 05-01-20
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.
Last updated on 05-01-20
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%. 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. 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.
Last updated on 05-01-20
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 http://nnlm.gov/members/. 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 ClinicalTrials.gov 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 on 05-01-20
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