Disease Profile

Congenitally corrected transposition of the great arteries

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of Onset

All ages

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ICD-10

Q20.5

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Transposition of the great arteries, congenitally corrected; Transposition of the great vessels, congenitally corrected; Congenitally corrected transposition of the great vessels

Categories

Congenital and Genetic Diseases; Heart Diseases

Summary

Congenitally corrected transposition of the great arteries is a rare heart defect that occurs when the ventricles and attached valves are switched. As a result, the aorta and the pulmonary artery are connected to the wrong lower heart chambers.[1][2] Click here to visit MayoClinic.com and view an image of this heart defect. While the oxygen-poor blood still flows to the lungs, and oxygen-rich blood still flows out to nourish the body, other heart problems (such as septal defects, pulmonary stenosis, tricuspid regurgitation, and heart block) are often associated with this defect and require treatment.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal left ventricular outflow tract morphology
0011103
Discordant atrioventricular connection
0011553
30%-79% of people have these symptoms
Ambiguous atrioventricular connection
0011552
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Atrial situs ambiguous
0011539
Bradycardia
Slow heartbeats
0001662
Heart murmur
Heart murmurs
0030148
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
5%-29% of people have these symptoms
Abnormal aortic valve cusp morphology
0031567
Aortic regurgitation
0001659
Atrial situs inversus
0011538
Bilateral superior vena cava with bridging vein
0011667
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Cyanosis
Blue discoloration of the skin
0000961
Double aortic arch
0011590
Double outlet left ventricle
0011581
Easy fatigability
0003388
Ebstein anomaly of the tricuspid valve
0010316
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
First degree atrioventricular block
0011705
Food intolerance
0012537
Gerbode ventricular septal defect
0011621
Global systolic dysfunction
0005185
Mobitz I atrioventricular block
0011707
Patent ductus arteriosus
0001643
Perimembranous ventricular septal defect
0011682
Premature atrial contractions
0006699
Pulmonary artery atresia
0004935
Right ventricular cardiomyopathy
0011663
Sick sinus syndrome
0011704
Single ventricle
0001750
Situs inversus totalis
All organs on wrong side of body
0001696
Supraventricular tachycardia with an accessory connection mediated pathway
0011688
Third degree atrioventricular block
Complete heart block
0001709
Tricuspid regurgitation
0005180
Wolff-Parkinson-White syndrome
0001716
1%-4% of people have these symptoms
Atrial flutter
0004749
Mesocardia
0011599
Ventricular tachycardia
0004756

Cause

Currently the cause of congenitally corrected transposition of the great arteries is not known. Limited data suggests that air pollutants and hair dye may act as environmental risk factors for this rare defect. Also, having a family history of this heart defect is a risk factor. It has been estimated that the recurrence risk in siblings is around 3% to 5%.[3]

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • The National Guideline Clearinghouse (NGC) is a public resource for evidence-based clinical practice guidelines. The NGC was originally created by the Agency for Healthcare Research and Quality (AHRQ) in partnership with the American Medical Association and the American Association of Health Plans.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Providing General Support

      Learn More

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenitally corrected transposition of the great arteries. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles

          • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

            Diagrams/Images

            • You can view an Image of congenitally corrected transposition of the great vessels on the MayoClinic.com Web site. To view click on "Image" above.

              References

              1. Congenitally Corrected Transposition of the Great Arteries. MayoClinic.com. https://www.mayoclinic.org/diseases-conditions/transposition-of-the-great-arteries/basics/definition/con-20043232. Accessed 1/6/2011.
              2. Congenitally Corrected Transposition of the Great Arteries. MayoClinic.com. https://www.mayoclinic.org/transposition-of-the-great-arteries/. Accessed 1/6/2011.
              3. Wallis et al.,. Congenitally corrected transposition. Orphanet Journal of Rare Diseases. 2011;6:22; https://www.ojrd.com/content/pdf/1750-1172-6-22.pdf. Accessed 1/6/2012.