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Disease Profile
Dextrocardia with 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
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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 totalis
Summary
Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal
Cause
Some people have dextrocardia with situs inversus as part of an underlying condition called primary ciliary dyskinesia. Primary ciliary dyskinesia can result from changes (
Diagnosis
Treatment
The management of people affected by Kartagener
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
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Primary Ciliary Dyskinesia (PCD) Foundation
10137 Portland Avenue South
Minneapolis, MN 55420
Toll-free: 1-844-CURE-PCD (1-844-287-3723)
E-mail: info@pcdfoundation.org
Website: https://www.pcdfoundation.org
Organizations Providing General Support
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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 -
The Children's Heart Foundation
5 Revere Drive
One Northbrook Place
Suite 200
Northbrook, IL 60062-1500
Telephone: +1-847-634-6474
E-mail: info@childrensheartfoundation.org
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 Cove Point Foundation part of the Johns Hopkins Children Hospital has developed an information page on dextrocardia. Click on the link above to view the information page.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Dextrocardia with situs inversus. Click on the link to view a sample search on this topic.
References
- Annamaria Wilhelm, MD. Situs Inversus Imaging. Medscape Reference. October 2013; https://emedicine.medscape.com/article/413679-overview.
- Dextrocardia. MedlinePlus. May 2014; https://www.nlm.nih.gov/medlineplus/ency/article/007326.htm.
- Dextrocardia with Situs Inversus. NORD. 2007; https://rarediseases.org/rare-diseases/dextrocardia-with-situs-inversus/.
- Alvin J Chin, MD. Heterotaxy Syndrome and Primary Ciliary Dyskinesia. Medscape Reference. May 2014; https://emedicine.medscape.com/article/896757-overview#showall.
- Primary ciliary dyskinesia. Genetics Home Reference. April 2014; https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia.
- Maimoona A Zariwala, PhD, FACMG, Michael R Knowles, MD, and Margaret W Leigh, MD. Primary Ciliary Dyskinesia. GeneReviews. February 2013; https://www.ncbi.nlm.nih.gov/books/NBK1122/#pcd.Differential_Diagnosis.
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