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Disease Profile
Situs inversus
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.
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Age of onset
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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)
Situs inversus viscerum; SIV
Categories
Congenital and Genetic Diseases; Heart Diseases
Summary
Situs inversus is a condition in which the arrangement of the internal
Symptoms
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Knowing that a person has situs inversus is important for diagnosing medical problems and preventing surgical mishaps that can result from the failure to recognize reversed anatomy. For example, in a person with situs inversus, appendicitis causes pain in the left lower abdomen instead of the right lower abdomen.[3] Wearing medical identification can help ensure proper treatment in an emergency medical situation.
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
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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.
In-Depth Information
- Medscape Reference has information on situs inversus. You may need to register to view this medical reference, 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 Situs inversus. Click on the link to view a sample search on this topic.
References
- Tiller GE, Hamid R. Situs Inversus. NORD Guide to Rare Disorders. 2003; https://rarediseases.org/rare-diseases/dextrocardia-with-situs-inversus/.
- Talabi AO, Sowande OA, Tanimola AG, Adejuyigbe O. Situs inversus in association with duodenal atresia. Afr J Paediatr Surg. July-September, 2013; 10(3):275-278. https://www.ncbi.nlm.nih.gov/pubmed/24192475.
- Annamaria Wilhelm. Situs Inversus Imaging. Medscape. October 7, 2013; https://emedicine.medscape.com/article/413679-overview#showall.
- Alfred Z. Abuhamad, Rabih Chaoui. Fetal Heterotaxy, Left Atrial Isomerism, Right Atrial Isomerism, and Situs Inversus. A Practical Guide to Fetal Echocardiography: Normal and Abnormal Hearts. Philadelphia, PA: Lippincott Williams & Wilkins; 2010;
- Nemec SF, et. al. Situs anomalies on prenatal MRI. Eur J Radiol. April, 2012; 81(4):e495-501.
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