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Disease Profile
Heterotaxy
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.
1-9 / 100 000
Age of onset
Infancy
ICD-10
Q89.3
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)
Heterotaxia; Heterotaxy syndrome; Visceral heterotaxy;
Categories
Congenital and Genetic Diseases
Summary
Heterotaxy is a condition characterized by internal
Symptoms
Most people with heterotaxy are first found to have the condition shortly after birth when they have symptoms related to a heart defect. However, other individuals are not diagnosed until later in childhood or adulthood due to problems with the intestines or liver that may cause abdominal pain or vomiting.[4] Other adults with heterotaxy are diagnosed because they were receiving
Cause
Some cases of heterotaxy are caused by an exposure to a
Finally, in some cases it is not known exactly what caused heterotaxy. It could be that these individuals have a mutation in a gene that we do not yet know to be associated with heterotaxy, or it may be that the error in development occurred for other reasons that are not yet understood.[1]
Diagnosis
Treatment
Other treatment options include inserting a pacemaker to control the rhythm of the heart. Some individuals may require medications to lower blood pressure to reduce stress on the heart. Vaccinations or
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 Supporting this Disease
-
Heterotaxy Connection
PO Box 585
Draper, UT 84020
E-mail: [email protected]
Website: https://www.heterotaxyconnection.org/
Organizations Providing General Support
-
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
- Genetics Home Reference (GHR) contains information on Heterotaxy. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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.
References
- Heterotaxy syndrome. Genetics Home Reference; January 2016; https://ghr.nlm.nih.gov/condition/heterotaxy-syndrome.
- Bouvagnet P. Heterotaxia. Orphanet. July 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=450. Accessed 11/9/2011.
- Cohen MS. Heterotaxy Syndrome (Isomerism). Children’s Hospital of Philadelphia; July 1, 2013; https://www.chop.edu/conditions-diseases/heterotaxy-syndrome-isomerism.
- Chin AJ. Heterotaxy Syndrome and Primary Ciliary Dyskinesia. Medscape Reference. May 9, 2014; https://emedicine.medscape.com/article/896757-overview.
- Rameshbabu CS, Gupta KK, Qasim M, and Gupta OP. Heterotaxy Polysplenia syndrome In An Adult With Unique Vascular Anomalies: Case Report With Review of Literature. Heterotaxy Polysplenia syndrome In An Adult With Unique Vascular Anomalies: Case Report With Review of Literature. July 2015; 9(7):22-37. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4638408/.
- Salavitabar A, Anderson BR, Aspelund G, Starc TJ, and Lai WW. Heterotaxy syndrome and intestinal rotational anomalies: Impact of the Ladd procedure. Journal of Pediatric Surgery. October 2015; 50(10):1695-1700. https://www.ncbi.nlm.nih.gov/pubmed/25783348.
- Shiraishi I and Ichikawa H. Human Heterotaxy Syndrome: From Molecular Genetics to Clinical Features, Management, and Prognosis. Circulation Journal. 2012; 76:2066-2075. https://www.jstage.jst.go.jp/article/circj/76/9/76_CJ-12-0957/_pdf.
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