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Diseases

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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Overview



What is transposition of the great arteries?

What causes transposition of the great arteries (TGA)?


What is transposition of the great arteries?

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).[1] The exact cause of TGA in most cases is unknown.[2] Surgery is done to correct the abnormality during the first few days of life.[1]
Last updated: 6/27/2011

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.[2][3]
Last updated: 6/27/2011

References
  1. Gregory S. Liptak. Transposition of the Great Arteries. Merck Manuals. April 2006; http://www.merckmanuals.com/home/sec23/ch265/ch265b.html#sec23-ch265-ch265b-306. Accessed 6/27/2011.
  2. Paula Martins and Eduardo Castela. Transposition of the great arteries. Orphanet Journal of Rarer Diseases. October 2008; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577629/?tool=pubmed. Accessed 6/27/2011.
  3. Victor A. McKusick et al. TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1. OMIM. October 10, 2007; http://www.ncbi.nlm.nih.gov/omim/608808. Accessed 6/27/2011.