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Disease Profile
Congenitally corrected transposition of the great arteries
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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 |
0011663 | |
Sick sinus |
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
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.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnosis is centered on assessing whether the patient presents isolated malformations, or a spectrum of malformations, and includes double inlet left ventricle (see this term) with left-sided incomplete right ventricle, isomerism of atrial appendages with left-handed ventricular topology.
Visit the Orphanet disease page for more information.
|
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
-
Adult Congenital Heart Association (ACHA)
280 North Providence Road, Suite 6
Media, PA 19063
Toll-free: 1-888-921-ACHA
Telephone: +1-215-849-1260
E-mail: [email protected]
Website: https://www.achaheart.org/ -
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231-4596
Toll-free: 800-242-8721
Telephone: 214-570-5978
E-mail: https://www.heart.org/en/forms/general-questions-and-latest-research-information
Website: https://www.heart.org -
Mended Hearts
Merry Acres Executive Building
1500 Dawson Road
Albany, GA 31707
Toll-free: 1-888-432-7899
Telephone: +1-229-518-2680
E-mail: [email protected]
Website: https://mendedhearts.org/ -
The Children's Heart Foundation
5 Revere Drive
One Northbrook Place
Suite 200
Northbrook, IL 60062-1500
Telephone: +1-847-634-6474
E-mail: [email protected]
Website: https://www.childrensheartfoundation.org/
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
- The Mayo Foundation for Medical Education and Research has an information page on congenitally corrected transposition of the great vessels. Click on the link above to view this information page.
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
- 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.
- Congenitally Corrected Transposition of the Great Arteries. MayoClinic.com. https://www.mayoclinic.org/transposition-of-the-great-arteries/. Accessed 1/6/2011.
- 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.
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